Associated Papers
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Wang Q et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
One Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3-Three Case Reports.
Vlad RM et al.
Reports (mdpi), 2025
Crigler Najjar syndrome type II with severe jaundice as a new subtype(?) : A rare case report.
Li X et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.
Horinouchi T et al.
Journal of Autism and Developmental Disorders, 2022
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.
Vela-Amieva M et al.
Orphanet Journal of Rare Diseases, 2021
Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
Trabelsi N et al.
European Journal of Medical Genetics, 2021
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2021
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › DPWG_Variants
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