cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.30608012.v1
title: Supplementary Material for: A candidate gene for Cerebro-Oculo-Nasal Syndrome; A zinc-finger gene ZNF185 located at Xq28

description: Introduction: Cerebro-oculo-nasal syndrome (CONS) is characterized by ocular alterations ranging from anophthalmia/microphthalmia to normal eyes, structural anomalies of the central nervous system, and proboscis-like nares. This syndrome was first described more than 30 years ago, but only twenty-one patients have been reported to date. 
Case Presentation: In the present report we present a 20-year-old CONS patient who exhibited anophthalmia, microphthalmia, cleft lip-palate, and proboscis-like nares. Exome sequencing (ES) analysis was performed for clinical diagnosis for the index case her parents were evaluated with Sanger sequence analysis methods in terms of the variation detected in the index case. The exome sequencing analysis of the patient identified a novel heterozygous frameshift variant in the ZNF185 gene.This variant was not detected in her parents, whose biological relationship to the patient was confirmed through identity testing. According to the American College of Medical Genetics and Genomics (ACMG) criteria, this novel de novo variant was assessed as likely pathogenic. PBMCs (Peripheral blood mononuclear cells) were isolated from peripheral blood of the patient and her parents. Protein was extracted and analyzed by Western blot using antibodies against ZNF185 and GAPDH as control. Western blot analysis detected an ~80 kDa protein in both the patient and her healthy parents. Additionally, extra bands (~20–25 kDa) were observed in the patient using the anti-ZNF185 antibody. Conclusion: We aim to evaluate all CONS patients based on their clinical features. Furthermore, we propose that the ZNF185 gene may play a role in the etiology of CONS.
DOI: 10.6084/m9.figshare.30608015
title: Supplementary Material for: International validation of the Quality of Life Relevance-Acne questionnaire

description: Introduction. An acne-specific questionnaire Quality of Life Relevance-Acne (QOLRELEVANCE-ACNE), was developed to evaluate Health-related Quality of Life based on the most relevant topics for acne patients. The aim of the present study was to undertake an international validation of the QOLRELEVANCE-ACNE questionnaire and to propose a severity grading system for its scores.
Methods. Patients with acne were asked to fill in the QOLRELEVANCE-ACNE and Dermatology Life Quality Index (DLQI) questionnaires. Global acne severity was assessed independently by both dermatologists and patients. Cronbach’s alpha was used for assessment of internal consistency of the QOLRELEVANCE-ACNE questionnaire. Spearman rank correlation was used to study convergent validity and test-retest reliability of the QOLRELEVANCE-ACNE questionnaire. DLQI severity banding system and global acne severity grades were applied to develop variants of the scoring system for the QOLRELEVANCE-ACNE questionnaire.
Results. The results of 726 patients with acne across seven countries (Bulgaria, Ukraine, Greece, Spain, Sri Lanka, Croatia, and Malta) were analysed. Cronbach’s alpha was 0.94 for the entire QOLRELEVANCE-ACNE questionnaire, 0.90 for the Socioemotional, 0.88 for the Symptoms, and 0.76 for the Stigma and Suicidal thoughts’ domains. The QOLRELEVANCE-ACNE questionnaire showed high test-retest reliability (r=0.96, p&lt;0.001) and strong correlation with DLQI scores (r&gt;0.6, p&lt;0.001 in all countries). The following grading system of the QOLRELEVANCE-ACNE questionnaire scores was accepted: total scores &lt;20 indicate a mild effect, scores from 20 to 30 indicate a moderate effect and scores &gt;30 indicate a severe effect on a patient's life.
Conclusion. Simultaneous international validation of the QOLRELEVANCE-ACNE questionnaire confirmed its convergent validity, internal consistency and test-retest reliability. A grading system of the QOLRELEVANCE-ACNE questionnaire scores was accepted.
DOI: 10.6084/m9.figshare.30608015.v1
title: Supplementary Material for: International validation of the Quality of Life Relevance-Acne questionnaire

description: Introduction. An acne-specific questionnaire Quality of Life Relevance-Acne (QOLRELEVANCE-ACNE), was developed to evaluate Health-related Quality of Life based on the most relevant topics for acne patients. The aim of the present study was to undertake an international validation of the QOLRELEVANCE-ACNE questionnaire and to propose a severity grading system for its scores.
Methods. Patients with acne were asked to fill in the QOLRELEVANCE-ACNE and Dermatology Life Quality Index (DLQI) questionnaires. Global acne severity was assessed independently by both dermatologists and patients. Cronbach’s alpha was used for assessment of internal consistency of the QOLRELEVANCE-ACNE questionnaire. Spearman rank correlation was used to study convergent validity and test-retest reliability of the QOLRELEVANCE-ACNE questionnaire. DLQI severity banding system and global acne severity grades were applied to develop variants of the scoring system for the QOLRELEVANCE-ACNE questionnaire.
Results. The results of 726 patients with acne across seven countries (Bulgaria, Ukraine, Greece, Spain, Sri Lanka, Croatia, and Malta) were analysed. Cronbach’s alpha was 0.94 for the entire QOLRELEVANCE-ACNE questionnaire, 0.90 for the Socioemotional, 0.88 for the Symptoms, and 0.76 for the Stigma and Suicidal thoughts’ domains. The QOLRELEVANCE-ACNE questionnaire showed high test-retest reliability (r=0.96, p&lt;0.001) and strong correlation with DLQI scores (r&gt;0.6, p&lt;0.001 in all countries). The following grading system of the QOLRELEVANCE-ACNE questionnaire scores was accepted: total scores &lt;20 indicate a mild effect, scores from 20 to 30 indicate a moderate effect and scores &gt;30 indicate a severe effect on a patient's life.
Conclusion. Simultaneous international validation of the QOLRELEVANCE-ACNE questionnaire confirmed its convergent validity, internal consistency and test-retest reliability. A grading system of the QOLRELEVANCE-ACNE questionnaire scores was accepted.
DOI: 10.6084/m9.figshare.30608018
title: Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review

description: Introduction: High-dose ambroxol is an effective pharmacological chaperone therapy for the systemic and neurological symptoms of Gaucher disease (GD). However, no clinical evidence of perinatal-onset GD has been documented. Case presentation: The patient had perinatal-onset neuronopathic GD (PnGD) and received high-dose ambroxol, beginning at 10 days of life after a newborn screening report. There was a transient hematological response after combined ambroxol and enzyme replacement therapy; however, laryngospasm, epileptic seizures, liver dysfunction, and heart failure progressed. The patient died 95 days after birth. Genetic testing revealed a homozygous L483R variant in GBA1. A literature review of 56 patients with nGD confirmed poor survival outcomes for patients with PnGD. Conclusion: Ambroxol therapy may be insufficient to improve the prognosis of patients with PnGD, underscoring the limitations of early intervention in newborn-screened patients with GD. Therefore, pre-emptive therapeutic strategies are required to rescue and cure neonates with PnGD.
DOI: 10.6084/m9.figshare.30608018.v1
title: Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review

description: Introduction: High-dose ambroxol is an effective pharmacological chaperone therapy for the systemic and neurological symptoms of Gaucher disease (GD). However, no clinical evidence of perinatal-onset GD has been documented. Case presentation: The patient had perinatal-onset neuronopathic GD (PnGD) and received high-dose ambroxol, beginning at 10 days of life after a newborn screening report. There was a transient hematological response after combined ambroxol and enzyme replacement therapy; however, laryngospasm, epileptic seizures, liver dysfunction, and heart failure progressed. The patient died 95 days after birth. Genetic testing revealed a homozygous L483R variant in GBA1. A literature review of 56 patients with nGD confirmed poor survival outcomes for patients with PnGD. Conclusion: Ambroxol therapy may be insufficient to improve the prognosis of patients with PnGD, underscoring the limitations of early intervention in newborn-screened patients with GD. Therefore, pre-emptive therapeutic strategies are required to rescue and cure neonates with PnGD.
DOI: 10.15468/dl.bmreg5
title: Occurrence Download

description: A dataset containing 1918 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((154.57929 45.61656,130.4285 62.38008,111.39197 49.59435,101.73167 38.08721,98.89041 24.8753,119.63167 8.53801,154.57929 45.61656))",
 "TaxonKey is Berberis amurensis"
 ]
}

 The dataset includes 1918 records from 88 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030279-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.32vwqb
title: Occurrence Download

description: A dataset containing 225 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Rhinopithecus roxellana"
 ]
}

 The dataset includes 225 records from 19 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030280-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5281/zenodo.17590866
title: Dataset for "Exploring new EarthCARE observations for evaluating Greenland clouds in RACMO2.4"

description: Dataset accompanying the paper "Exploring new EarthCARE observations for evaluating Greenland clouds in RACMO2.4" by Feenstra et al. 

The data includes:



EarthCARE_merged: merged EarthCARE segments in the format used for the plots of the two case studies, for ATL_NOM_1B, CPR_NOM_1B, ATL_ICE_2A, CPR_CLD_2A, AC__TC__2B.

RACMO: RACMO model output on EarthCARE timestamp.



vf{date}ec.nc : output for whole RACMO domain

ec_traj{date}MG.nc : co-located RACMO output on EarthCARE trajectory

clm_out{date}MG.nc : output of ATLID simulator for RACMO input

siconca : sea ice concentration used in scene plots



RACMO_mask : mask file including the topography of RACMO for the Greenland domain


The code used to process the ec_traj and clm_out files and to make the plots in the manuscript can be found on Github: https://github.com/thirza-feenstra/EarthCARE4RCM

Contact information: Thirza Feenstra (t.n.feenstra@uu.nl)
DOI: 10.5281/zenodo.17590865
title: Dataset for "Exploring new EarthCARE observations for evaluating Greenland clouds in RACMO2.4"

description: Dataset accompanying the paper "Exploring new EarthCARE observations for evaluating Greenland clouds in RACMO2.4" by Feenstra et al. 

The data includes:



EarthCARE_merged: merged EarthCARE segments in the format used for the plots of the two case studies, for ATL_NOM_1B, CPR_NOM_1B, ATL_ICE_2A, CPR_CLD_2A, AC__TC__2B.

RACMO: RACMO model output on EarthCARE timestamp.



vf{date}ec.nc : output for whole RACMO domain

ec_traj{date}MG.nc : co-located RACMO output on EarthCARE trajectory

clm_out{date}MG.nc : output of ATLID simulator for RACMO input

siconca : sea ice concentration used in scene plots



RACMO_mask : mask file including the topography of RACMO for the Greenland domain


The code used to process the ec_traj and clm_out files and to make the plots in the manuscript can be found on Github: https://github.com/thirza-feenstra/EarthCARE4RCM

Contact information: Thirza Feenstra (t.n.feenstra@uu.nl)
DOI: 10.15468/dl.av676s
title: Occurrence Download

description: A dataset containing 3282 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((114.28768 11.84534,159.17825 53.85404,99.54584 59.7286,94.00379 22.37522,114.28768 11.84534))",
 "TaxonKey is Crepidiastrum sonchifolium"
 ]
}

 The dataset includes 3282 records from 69 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030282-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5281/zenodo.17596823
title: Supplementary Material and Coding Scheme of Reviewed 80 Papers

description: This repository contains the supplementary materials for the paper entitled "Digital Twins for Human-centred Smart Cities: A Systematic Review of Citizen Engagement under Ecological and Participation Frameworks." (under review at CAADRIA 2026). It includes:1. A comprehensive bibliography (.bib/.txt) listing all 80 literature sources reviewed.2. The source code and scripts used for the analysis/figures in the paper.The main paper provides the context and narrative for this collection.
DOI: 10.5281/zenodo.17596822
title: Supplementary Material and Coding Scheme of Reviewed 80 Papers

description: This repository contains the supplementary materials for the paper entitled "Digital Twins for Human-centred Smart Cities: A Systematic Review of Citizen Engagement under Ecological and Participation Frameworks." (under review at CAADRIA 2026). It includes:1. A comprehensive bibliography (.bib/.txt) listing all 80 literature sources reviewed.2. The source code and scripts used for the analysis/figures in the paper.The main paper provides the context and narrative for this collection.
DOI: 10.15468/dl.fcxyvh
title: Occurrence Download

description: A dataset containing 658 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((126.92109 26.00294,125.50045 40.99063,126.92109 44.75532,122.23299 47.38349,106.606 40.77754,94.38854 27.42357,101.20759 16.55571,126.0687 9.73667,126.92109 26.00294))",
 "TaxonKey is Catalpa ovata"
 ]
}

 The dataset includes 658 records from 19 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030283-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15151/esrf-es-2232203631
title: Austrian Crystallographic Diffraction Consortium

description: The Austrian Crystallographic Diffraction Consortium (ACDC) BAG aims at supporting several macromolecular structural biology groups across Austria (in total
20 research groups at 9 institutions in 4 cities). We employ mainly the technique of X-ray crystallography to characterize macromolecular biological complexes,
but also solution scattering approaches are frequently used to characterize dynamic assemblies. Approval of this BAG will be essential for researchers in all
our groups to carry out their structural studies on various health-related and basic research-oriented topics, which are targeted at characterizing large molecular
assemblies or proteins currently under-represented in the PDB, including membrane proteins. Corresponding high-resolution diffraction data are only obtainable
through the use of synchrotron radiation sources. Thus regular synchrotron access is highly desirable to maintain a competitive advantage in our individual
research fields
DOI: 10.15151/esrf-es-2241571158
title: High-Pressure Stabilization of Novel Metal-Noble-Gas Complexes and Elusive Metal Fluorides

description: We propose to explore in situ high-pressure DAC synthesis of novel metal-noble-gas complexes and unprecedented high-oxidation-state metal fluorides by a laser-heating-induced decomposition of extremely potent fluorinators XeF4, XeF6 and KrF+ salts. This research could provide first examples of: Xe coordination to Ag, Ir, Pt cations; coordination of Kr to a metal cation; first crystal structure of organometallic noble-gas complex; and novel high oxidation-state metal fluorides of Ag, Ir, and Au.
DOI: 10.15468/dl.8n9fj5
title: Occurrence Download

description: A dataset containing 4 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is China",
 "TaxonKey is Qiongzhuea rigidula"
 ]
}

 The dataset includes 4 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030284-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.u39vnk
title: Occurrence Download

description: A dataset containing 11 species occurrences available in GBIF matching the query:
{
 "and" : [
 "OccurrenceStatus is Present",
 "TaxonKey is Nymphaea alexii"
 ]
}

 The dataset includes 11 records from 5 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030285-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5281/zenodo.17596954
title: Respiratorische Synzytialvirusfälle in Deutschland

description: Im Datensatz "Respiratorische Synzytialvirusfälle in Deutschland" des Robert Koch-Instituts werden die Daten basierend auf Meldungen zu Infektionen mit dem Respiratorischen Synzytial-Virus (RSV) nach dem Infektionsschutzgesetz (IfSG) bereitgestellt. Darin enthalten sind Informationen auf Bundeslandebene zu Infektionen nach Falldefinition des Robert Koch-Instituts, differenziert nach Altersgruppen. Diese Daten dienen als Grundlage für epidemiologische Bewertungen und gesundheitspolitische Maßnahmen.
DOI: 10.5281/zenodo.17596955
title: Laborbestätigte Influenzafälle in Deutschland

description: Im Datensatz "Laborbestätigte Influenzafälle in Deutschland" des Robert Koch-Instituts werden die Daten basierend auf Meldungen zu Infektionen mit dem Influenzavirus nach dem Infektionsschutzgesetz (IfSG) bereitgestellt. Darin enthalten sind Informationen auf Bundeslandebene zu Infektionen nach Falldefinition des Robert Koch-Instituts, differenziert nach Altersgruppen. Diese Daten dienen als Grundlage für epidemiologische Bewertungen und gesundheitspolitische Maßnahmen.
DOI: 10.15468/dl.jj38yb
title: Occurrence Download

description: A dataset containing 12 species occurrences available in GBIF matching the query:
{
 "and" : [
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "TaxonKey is Myricaria pulcherrima"
 ]
}

 The dataset includes 12 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030286-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.w5ym73
title: Occurrence Download

description: A dataset containing 242 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((129.59028 28.44103,120.49822 55.14897,84.0734 32.64638,87.48284 8.7797,117.8845 4.51787,129.59028 28.44103))",
 "TaxonKey is Catalpa bungei"
 ]
}

 The dataset includes 242 records from 16 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030287-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.w9frvz
title: Occurrence Download

description: A dataset containing 1692 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Arborophila campbelli"
 ]
}

 The dataset includes 1692 records from 7 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030288-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.gpphke
title: Occurrence Download

description: A dataset containing 11515 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Salvinia minima"
 ]
}

 The dataset includes 11515 records from 199 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030289-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.13140/rg.2.2.15832.35847
title: "The Ministry of Youth Exchange Programme" Japan, 2000
DOI: 10.17605/osf.io/j24hz
title: Double dissociation between effects of prism adaptation and virtual-tilted environment on straight-ahead and verticality perception

description: The ego-centred straight-ahead (SA) and gravity-centred visual vertical (VV) constitute important reference frames for perception and action. Surprisingly, clinical studies have shown a strong association between SA and VV representational biases after right hemispheric stroke. It was therefore proposed that the brain might build 3D representations referenced to the body in the horizontal plane, and to gravity in the frontal plane. Here, we tackled this hypothesis in 37 right-handed healthy individuals (median age=20 years old, 23[62%] females), by testing whether two sensorimotor stimulations, prism adaptation (PA) and tilted virtual-reality (VTR) immersion, could bias both SA and VV orientations in a congruent, co-dependent fashion. Each participant underwent a session of right or left PA (optic shift: ±10°) and VTR (tilt: ±18°). Pre- and post-test SA and VV orientations were measured in darkness, by asking participants to point straight-ahead and to adjust a luminous line to the vertical, respectively. VV was also measured during VTR. As expected, we observed strong effects of PA on SA (ANOVA, np2=0.42), and of VTR on VV (np2=0.93), but only during the immersion. In contrast, PA had no effects on VV (p=.091, np2=0.09) and VTR had no effects on SA (p=.66, np2=0.01). Altogether, these results suggest that the brain represents space by using a mosaic of ego-centred and gravity-centred 2D coordinate systems, rather than a “hybrid” 3D coordinate system combining the “straight-ahead” and “straight-above”. Furthermore, the absence of long-lasting VTR effects might represent a break to the clinical use of VTR for impaired spatial orientation.
DOI: 10.17605/osf.io/8f249
title: Green Aid, Green Trade: Examining the Impact of Environmental Aid on Trade Trajectories

description: The Replication Data zip file includes:
- The "Exporter Model.dta" includes a bilateral panel dataset between 2002 and 2025 covering country-pairs total exports, green exports, and dirty exports. The dataset includes information on total aid received by a recipient country in a given year, as well as data on preferential trade agreements, institutions, gravity controls, Freedom house indexes, and environmental tax. This is the main data used to generate the results for the exporter model in the paper. 
- The "Dynamic Model.dta" includes a rectangularized data of all possible donor-recipient combinations to account for selection bias. It includes mostly the same variables as the "Exporter Model Data" but it also contains information on total official development assistance (ODA), and shares of green parliaments.
- A word template explaining code and data.
DOI: 10.15468/dl.rydq6j
title: Occurrence Download

description: A dataset containing 12 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Bursera pontiveteris",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present"
 ]
}

 The dataset includes 12 records from 4 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0030290-251025141854904/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.