TCF4Deletions in Pitt-Hopkins Syndrome-Reference-Cited by-同舟云学术

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TCF4Deletions in Pitt-Hopkins Syndrome

Published:2008-11 Issue:11 Volume:29 Page:E242-E251
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Giurgea Irina,Missirian Chantal,Cacciagli Pierre,Whalen Sandra,Fredriksen Tessa,Gaillon Thierry,Rankin Julia,Mathieu-Dramard Michele,Morin Gilles,Martin-Coignard Dominique,Dubourg Christèle,Chabrol Brigitte,Arfi Jacqueline,Giuliano Fabienne,Claude Lambert Jean,Philip Nicole,Sarda Pierre,Villard Laurent,Goossens Michel,Moncla Anne

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20859/fullpdf

Cited by 56 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. MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome;Neurotherapeutics;2024-06

2. From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning;Journal of Clinical Medicine;2024-04-29

3. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project;Human Genomics;2024-04-29

4. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project;2023-08-04

5. Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports;World Journal of Clinical Cases;2022-12-06

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