Clinical sciences

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THESIS

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participantsin the Shaoyang area

thesis posted on 2025-05-09

Hua Zhang

DATASET

SNP-array data

dataset posted on 2025-05-08

Luming Wang

Oscillatory Field Genesis: The Emergent Architecture of Spacetime, Matter, and Memory

dataset posted on 2025-05-05

Drippy Stone

DATASET

Summary raw EWAS (Ginevičienė et al. 2025. Exp Physiol.)_xlsx.zip

dataset posted on 2025-04-26

Erinija Pranckeviciene

DATASET

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

dataset posted on 2025-04-24

Xinyue Zhang

DATASET

The raw transcriptome data during the study"SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop"

dataset posted on 2025-04-08

Wenqi Chen

DATASET

Elsafty_Reports_of_Myeloid_Neoplasms_2025

dataset posted on 2025-04-05

Ahmed Elsafty

Informing drug discovery: a systematic review of POLG-related disease models

dataset posted on 2025-03-31 in Newcastle University

DATASET

炎症因子在肠道菌群与子宫内膜癌关系中的中介作用：一项孟德尔随机化研究无标题项目

dataset posted on 2025-03-27

Shu Huan Li

Additional file 1 of Ambitions for palliative and end of life care: mapping examples of use of the framework across England

dataset posted on 2025-03-18 in The Open University

DATASET

An explainable dataset linking facial phenotypes and genes to rare genetic diseases

dataset posted on 2025-03-04

DATASET

Kidney Panel Variants (MSS)

dataset posted on 2025-02-28

Paola Krall

DATASET

Average TAC for patients and organs

dataset posted on 2025-02-28

Anonymous Anonymouw

DATASET

Identification des genres bactériens associés aux gènes régulés dans le cancer colorectal : résultats de l'analyse GSEA

dataset posted on 2025-02-28

Nouama Melissa

DATASET

Complete_NORMAL_vs_TUMOR_SHAMAN_Genre_Bacterien.tsv

dataset posted on 2025-02-28

Nouama Melissa

Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 gene Variant Types

journal contribution posted on 2025-02-15

DATASET

AH 患者和健康control.xlsx的 rs933647 和 rs201864123 基因型

dataset posted on 2025-02-12

Xilian Luo

Cross-Species Hybrid Proteins: Advancing Tumor Suppression and DNA Repair with p53-SOG1 Fusion

journal contribution posted on 2025-01-31

Quazi Uzaif

Example of hybrid protien creation

journal contribution posted on 2025-01-28

Quazi Uzaif

Integrating Plant-Specific SOG1 and Animal Tumor Suppressor p53 to Enhance DNA Damage Responses Across Species

figure posted on 2025-01-25

Quazi Uzaif

Supplementary figures: <b>Unveiling aberrant stromal pre-CAFs (PDPN</b><sup><strong>high</strong></sup><b>/CD10</b><sup><strong>+</strong></sup><b>, PD-L2</b><sup><strong>+</strong></sup><b>): a signature in normal breast tissue of </b><b><i>BRCA1</i></b><b>/</b><b><i>BRCA2</i></b><b> </b><b>mutation carriers</b>

Supplementary figures: Unveiling aberrant stromal pre-CAFs (PDPN^high/CD10⁺, PD-L2⁺): a signature in normal breast tissue of BRCA1/BRCA2 mutation carriers

figure posted on 2025-01-24

Francesco De Leonardis

DATASET

Genome-Wide Association Study of eGFR Using Repeated Measurements: Insights from a Longitudinal Analysis

dataset posted on 2025-01-22

Hsiao-Mei Tsao

DATASET

Oligo_Sequence.zip

dataset posted on 2025-01-20

DATASET

Kidney Panel-ACTN4

dataset posted on 2025-01-15

Paola Krall

original western blots

figure posted on 2025-01-08

Jingfei Zhang

<b>Definitive Proof of the Riemann Hypothesis and the</b><b>Distribution of Prime Numbers</b>

Definitive Proof of the Riemann Hypothesis and theDistribution of Prime Numbers

preprint posted on 2025-01-08

DATASET

MALAT1-case.xlsx

dataset posted on 2024-12-27

Lin Lin

Simulated Rare Disease Patients HPO - IMCLA 2024

dataset posted on 2024-12-23

Aaron Masino

DATASET

PREVALENCE OF COMMON AUTOSOMAL RECESSIVE AND X-LINKED CONDITIONS IN PREGNANT WOMEN IN VIETNAM: A CROSS-SECTIONAL STUDY

dataset posted on 2024-12-23

DATASET

TWAS/PWAS gene expression prediction models

dataset posted on 2024-12-23

huang Yu-Feng

DATASET

Dataset Kidney Panel Variants 2024 #20-25

dataset posted on 2024-12-18

Paola Krall

DATASET

Lipin Variants in Niemann-Pick type C patients.

dataset posted on 2024-12-17

Andrew Munkacsi

A Mendelian randomization study on the causal role of immune cells in chronic pancreatitis

journal contribution posted on 2024-12-12

Tay-Sachs Disease and HEXA Gene Mutations _ Genome Disfunction Review

journal contribution posted on 2024-12-11

Elmas Yildiz

Marfan Syndrome and FBN1 Gene Mutations _ Genome Disfunction Review

journal contribution posted on 2024-12-11

Elmas Yildiz

Huntington's Disease and HTT Gene Mutations _ Genome Disfunction Review

journal contribution posted on 2024-12-11

Elmas Yildiz

DATASET

A genome-wide association study identified PRKCB as a causal gene and therapeutic target for Mycobacterium avium complex disease

dataset posted on 2024-12-09

Zhiqiang Li

Cystic Fibrosis and CFTR Mutations _ Genome Disfunction Review

journal contribution posted on 2024-12-07

Elmas Yildiz

Marfan Syndrome and FBN1 Mutations _ Genome Disfunction Review

journal contribution posted on 2024-12-07

Elmas Yildiz

Brachydactyly type D _ Genome Disfunction Review

journal contribution posted on 2024-12-07

Elmas Yildiz

Clinical sciences

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participantsin the Shaoyang area

SNP-array data

Oscillatory Field Genesis: The Emergent Architecture of Spacetime, Matter, and Memory

Summary raw EWAS (Ginevičienė et al. 2025. Exp Physiol.)_xlsx.zip

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

The raw transcriptome data during the study"SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop"

Elsafty_Reports_of_Myeloid_Neoplasms_2025

Informing drug discovery: a systematic review of POLG-related disease models

炎症因子在肠道菌群与子宫内膜癌关系中的中介作用： 一项孟德尔随机化研究无标题项目

Additional file 1 of Ambitions for palliative and end of life care: mapping examples of use of the framework across England

An explainable dataset linking facial phenotypes and genes to rare genetic diseases

Kidney Panel Variants (MSS)

Average TAC for patients and organs

Identification des genres bactériens associés aux gènes régulés dans le cancer colorectal : résultats de l'analyse GSEA

Complete_NORMAL_vs_TUMOR_SHAMAN_Genre_Bacterien.tsv

Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 gene Variant Types

AH 患者和健康control.xlsx的 rs933647 和 rs201864123 基因型

Cross-Species Hybrid Proteins: Advancing Tumor Suppression and DNA Repair with p53-SOG1 Fusion

Example of hybrid protien creation

Integrating Plant-Specific SOG1 and Animal Tumor Suppressor p53 to Enhance DNA Damage Responses Across Species

Supplementary figures: Unveiling aberrant stromal pre-CAFs (PDPNhigh/CD10+, PD-L2+): a signature in normal breast tissue of BRCA1/BRCA2 mutation carriers

Genome-Wide Association Study of eGFR Using Repeated Measurements: Insights from a Longitudinal Analysis

Oligo_Sequence.zip

Kidney Panel-ACTN4

original western blots

Definitive Proof of the Riemann Hypothesis and theDistribution of Prime Numbers

MALAT1-case.xlsx

Simulated Rare Disease Patients HPO - IMCLA 2024

PREVALENCE OF COMMON AUTOSOMAL RECESSIVE AND X-LINKED CONDITIONS IN PREGNANT WOMEN IN VIETNAM: A CROSS-SECTIONAL STUDY

TWAS/PWAS gene expression prediction models

Dataset Kidney Panel Variants 2024 #20-25

Lipin Variants in Niemann-Pick type C patients.

A Mendelian randomization study on the causal role of immune cells in chronic pancreatitis

Tay-Sachs Disease and HEXA Gene Mutations _ Genome Disfunction Review

Marfan Syndrome and FBN1 Gene Mutations _ Genome Disfunction Review

Huntington's Disease and HTT Gene Mutations _ Genome Disfunction Review

A genome-wide association study identified PRKCB as a causal gene and therapeutic target for Mycobacterium avium complex disease

Cystic Fibrosis and CFTR Mutations _ Genome Disfunction Review

Marfan Syndrome and FBN1 Mutations _ Genome Disfunction Review

Brachydactyly type D _ Genome Disfunction Review

炎症因子在肠道菌群与子宫内膜癌关系中的中介作用：一项孟德尔随机化研究无标题项目

Supplementary figures: Unveiling aberrant stromal pre-CAFs (PDPN^high/CD10⁺, PD-L2⁺): a signature in normal breast tissue of BRCA1/BRCA2 mutation carriers