Associated Papers
Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.
Uddin I et al.
Molecular Genetics and Genomics : Mgg, 2024
"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".
Yang X et al.
Human Genetics, 2021
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
Bouilly J et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.
Zhao S et al.
Fertility and Sterility, 2015
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA et al.
American Journal of Human Genetics, 2011
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.
Cannarella R et al.
Asian Journal of Andrology, 0
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