Associated Papers
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
PEComa With MITF Overexpression: Clinicopathologic and Molecular Analysis of a Series of 36 Cases.
Hanna J et al.
The American Journal of Surgical Pathology, 2024
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.1.
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1
Select a paper to view details