Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
34288589 (PubMed )
Supplement: MGG3-9-e1756-s001.xlsx › Table_S1
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
31880409 (PubMed )
Supplement: MGG3-8-e1053-s002.xlsx › Sheet1
Reversal of cystoid macular edema in gyrate atrophy patients.
Heller D et al.
Ophthalmic Genetics, 2017
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
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