AnXRCC4Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome-Reference-Cited by-同舟云学术

AnXRCC4Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

Published:2015-05 Issue:5 Volume:100 Page:E789-E798
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

de Bruin Christiaan,Mericq Verónica,Andrew Shayne F.,van Duyvenvoorde Hermine A.,Verkaik Nicole S.,Losekoot Monique,Porollo Aleksey,Garcia Hernán,Kuang Yi,Hanson Dan,Clayton Peter,van Gent Dik C.,Wit Jan M.,Hwa Vivian,Dauber Andrew

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases;Biochemistry and Biophysics Reports;2024-09

2. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency;Clinical Genetics;2024-05-23

3. Quantitative Proteome Analysis of Lap1-Deficient Human Fibroblasts: A Pilot Approach for Predicting the Signaling Pathways Deregulated in Lap1-Associated Diseases;2024

4. DNA damage and repair: underlying mechanisms leading to microcephaly;Frontiers in Cell and Developmental Biology;2023-10-10

5. DNA double-strand break genetic variants in patients with premature ovarian insufficiency;Journal of Ovarian Research;2023-07-10