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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

Research article

First published 2011-10

Identification of a Novel de Novo STK11 Mutation in a Chinese Child with Peutz-Jeghers Syndrome

W-L Liu, F Li, Z-X He [...]

Journal of International Medical Research

Retricted access

Research article

First published 2016-8

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Leslie Hotchkiss, Sandra Donkervoort, Meganne E. Leach [...]

Journal of Child Neurology

Retricted access

Case report

First published 2019-5

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM,Initially Suspected to Have Alternative Craniofacial Diagnoses

Jennie C. Lacour, Lori McBride, Hugo St. Hilaire [...]

The Cleft Palate Craniofacial Journal

Free access

Research article

First published 2019

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy,Myotonia and Multiple Congenital Anomalies

Megan Waldrop, Jakkrit Amornvit, Christopher R. Pierson [...]

Journal of Neuromuscular Diseases

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Research article

First published 2012-1

A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome

Despina Apostolopoulou, Alexander Stratoudakis, Angeliki Hatzaki [...]

The Cleft Palate Craniofacial Journal

Open access

Case report

First published 2021-11

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report

Tong Qiu, Qian Dai, Qiu Wang

Journal of International Medical Research

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Other

First published 2018-3

Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies

Sunita N. Misra, Jennifer A. Kearney

Epilepsy Currents

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Letter

First published 2023-06

Letter to the Editor: Spontaneous Colon Perforation in Ehlers-Danlos Syndrome Type IV Caused by a Novel,Spontaneous,De novo Mutation of COL3A1

Philip S. Barie, Kareem Ibrahim, Mayur Narayan

Surgical Infections

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Research article

First published 2015-3

A novel mutation differential evolution for global optimization

Xiaobing Yu, Mei Cai, Jie Cao

Journal of Intelligent & Fuzzy Systems: Applications in Engineering and Technology

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