Associated Papers
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.
Gao Z et al.
American Journal of Obstetrics and Gynecology, 2026
Comparative analysis of the mutational landscape and evolutionary patterns of pancreatic ductal adenocarcinoma metastases in the liver or peritoneum.
Yao G et al.
Heliyon, 2024
39170579 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.
Shak C et al.
Journal of Cell Science, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A et al.
Scientific Reports, 2023
36653407 (PubMed )
Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Solaguren-Beascoa M et al.
Clinical Genetics, 2021
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.
You SH et al.
Taiwanese Journal of Obstetrics & Gynecology, 2017
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