Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.
Gaikwad AS et al.
Ebiomedicine, 2025
Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.
Guo Y et al.
Frontiers in Oncology, 2025
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Riera-Escamilla A et al.
Human Reproduction Open, 2025
40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST6
Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.
Rocca MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.
Trautmann M et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Couthouis J et al.
Plos Genetics, 2014
25299611 (PubMed )
Supplement: pgen.1004704.s004.xlsx › Sheet1
Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.
Tadokoro-Cuccaro R et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014
Select a paper to view details