Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Cited by 76 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. Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS);Journal of Communication Disorders;2024-09
2. Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome;MOL SYNDROMOL;2024
3. Identification of Smith–Magenis syndrome cases through an experimental evaluation of machine learning methods;Frontiers in Computational Neuroscience;2024-03-22
4. Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.;2023-10-16
5. Sleep disturbances and behavior in Smith-Magenis syndrome;Research in Developmental Disabilities;2022-09
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