Associated Papers
Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.
Beskorovainaya TS et al.
International Journal of Molecular Sciences, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S et al.
Plos One, 2020
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH et al.
Journal of Human Genetics, 2018
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