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Retricted access

Research article

First published 2008-09

Multiple De Novo Mutations in the MECP2 Gene

David J. Bunyan, David O. Robinson

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2005-06

The Implication of De Novo 21-Hydroxylase Mutation in Clinical and Prenatal Molecular Diagnoses

Rong Mao, Jamie McDonald, Maureen Cantwell [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Brief report

First published 2022-01-04

Very Early-Onset Alzheimer’s Disease in the Third Decade of Life with de novo PSEN1 Mutations

Ke-Liang Chen, Pei-Xi Li, Yi-Min Sun [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2012

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León [...]

Clinical Medicine Insights: Pediatrics

Open access

Case report

First published 2015-10

Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome

Liu Chen, Bing Chen, Wuilin Leng [...]

Journal of International Medical Research

Free access

Case report

First published

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen [...]

Journal of Neuromuscular Diseases

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

Free access

Research article

First published 2011-5

De novo activation of HBV with escape mutations from hepatitis B surface antibody after living donor liver transplantation

Yoshihide Ueda, Hiroyuki Marusawa, Hiroto Egawa [...]

Antiviral Therapy

Retricted access

Research article

First published 2017-3

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yulin Chen, Yufei Xu, Guoqiang Li [...]

Journal of Child Neurology

Retricted access

Research article

First published 2014-06

Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data

John G. Cleary, Ross Braithwaite, Kurt Gaastra [...]

Journal of Computational Biology

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