Sage Journals: Discover world-class research

Retricted access

Research article

First published 2006-12

Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography

Michihiko Aramaki, Toru Udaka, Chiharu Torii [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2010-12

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

Cynthia F. Bartels

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2019

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau [...]

Genomics Insights

Open access

Case report

First published 2024

A case report of CHARGE syndrome caused by a de novo CHD7 gene mutation

Yuan Zhang, Yu Lu, Xicui Long [...]

Sage Open Medical Case Reports

Open access

Research article

First published 2025

The CHD Protein,Kismet,Restricts Synaptic BMP Signaling at Glutamatergic Synapses

Rachel A. Klaustermeier, Emily L. Hendricks, Joshua A. Preston [...]

Neuroscience Insights

Open access

Research article

First published 2026-1

Investigation of LBX1,TIMP2,GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients

Erkan Bilgin, Havva Tezcan Unlu, Gulsah Cecener [...]

Global Spine Journal

Open access

Research article

First published 2024-02

Effects of 4 Testing Arena Sizes and 11 Types of Embryo Media on Sensorimotor Behaviors in Wild-Type and chd7 Mutant Zebrafish Larvae

Dana R. Hodorovich, Tiara Fryer Harris, Derek F. Burton [...]

Zebrafish

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Research article

First published 2006-8

09:10 AM: Semicircular Canal Hypoplasia Associated with CHD7 Mutation1

Anna KM Karabatsos, Sarah Emery, Donna Martin [...]

Otolaryngology–Head and Neck Surgery

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Research article

First published 2014-08

Chromatin Properties of Regulatory DNA Probed by Manipulation of Transcription Factors

Alexei A. Sharov, Akira Nishiyama, Yong Qian [...]

Journal of Computational Biology

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Research article

First published 2025

Exome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review

Diana Cárdenas-Nieto, Ignacio Briceño-Balcázar, Julio Martínez-Lozano [...]

The Cleft Palate Craniofacial Journal

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