Associated Papers
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32741963 (PubMed )
Supplement: NIHMS1619687-supplement-Supplementary_Table_2.xlsx › Hoja1
Undifferentiated small round cell sarcoma in a young male: a case report.
Ricker CA et al.
Cold Spring Harbor Molecular Case Studies, 2020
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow DB et al.
Cold Spring Harbor Molecular Case Studies, 2017
28050602 (PubMed )
Supplement: supp_mcs.a001388_TableS1.xls › Clinical_Clinvar
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