Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation-Reference-Cited by-同舟云学术

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Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

Published:2008-09-19 Issue:1 Volume:46 Page:49-59
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Elizondo L I,Cho K S,Zhang W,Yan J,Huang C,Huang Y,Choi K,Sloan E A,Deguchi K,Lou S,Baradaran-Heravi A,Takashima H,Lucke T,Quiocho F A,Boerkoel C F

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 47 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. Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia;Journal of Clinical Immunology;2024-08-17

2. Genetic Findings in Short Turkish Children Born to Consanguineous Parents;Hormone Research in Paediatrics;2024-06-05

3. Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia;Pathology - Research and Practice;2024-02

4. Schimke immuno-osseous dysplasia. A case report in Colombia;Molecular Genetics and Metabolism Reports;2023-12

5. Hereditary dentin defects with systemic diseases;Oral Diseases;2023-04-24

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