Sage Journals: Discover world-class research

Retricted access

Research article

First published 2015-5

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Berna Seker Yilmaz, Deniz Kor, Serdar Ceylaner [...]

Journal of Child Neurology

Retricted access

Research article

First published 2014-4

Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2

Roberta Battini, Stefano D’Arrigo, Denise Cassandrini [...]

Journal of Child Neurology

Retricted access

Research article

First published 2014-3

Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis

S.N. Mitsui, A. Yasue, K. Masuda [...]

Journal of Dental Research

Free access

Research article

First published 2014-8

A Novel Presenilin 1 Mutation in Early-Onset Alzheimer’s Disease With Prominent Frontal Features

Haakon B. Nygaard, Carol F. Lippa, Djekidel Mehdi [...]

American Journal of Alzheimer's Disease & Other Dementias®

Retricted access

Case report

First published 2000-3

Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

Francis Y.M. Choy, Karen Wong, Hilary D. Vallance [...]

Pediatric and Developmental Pathology

Retricted access

Research article

First published 2016-1

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

Rita Vámos, Maigi Külm, Viktoria Szabó [...]

European Journal of Ophthalmology

Open access

Case report

First published 2021-4

Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

Xinwen Zhang, Shaozhi Zhao, Hongwei Liu [...]

Journal of International Medical Research

Retricted access

Brief report

First published 2017-2-3

Sporadic Cases with Novel Mutations and Pedigree in Hereditary Leukoencephalopathy with Axonal Spheroids

Liyong Wu, Jia Liu, Longze Sha [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2024-01-02

A Novel Mutation in Frabin ( FGD4 ) Causing a Mild Phenotype of CMT4H in an Indian Patient

Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi [...]

Journal of Neuromuscular Diseases

Retricted access

Other

First published 2007-07

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

Shigemi Kimura, Makoto Ikezawa, Shiro Ozasa [...]

Journal of Child Neurology

Search results