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Open access

Case report

First published 2018-12-20

Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female

Jullianne Diaz, Cathy Scheiner, Eyby Leon

Translational Science of Rare Diseases

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Brief report

First published 2026-3

Missense mutation of BMP1 may cause feline osteogenesis imperfecta without bone deformity

Masamine Takanosu, Hiroshi Aoki, Atsushi Toshima [...]

Journal of Veterinary Diagnostic Investigation

Free access

Research article

First published 2011-8

Identification of Missense Mutations in Exon 16 of Factor VIII Gene in Mild and Moderate Cases With Hemophilia A

Nuzhat Jahan Faridi, Nuzhat Husain, Mohammad Imran Siddiqi [...]

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2021-5

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family

Yanan Ji, Xiangyu Zhao, Juanmei Zhang [...]

European Journal of Ophthalmology

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Research article

First published 2010-6

A Novel Missense Mutation in Cathepsin K (CTSK) Gene in a Consanguineous Pakistani Family with Pycnodysostosis

Bushra Khan, Zahoor Ahmed, Wasim Ahmad

Journal of Investigative Medicine

Open access

Research article

First published 2018-9

Human oocyte maturation arrest caused by a novel missense mutation in TUBB8

Jingjing Xiang, Wei Wang, Chunfeng Qian [...]

Journal of International Medical Research

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Research article

First published 2022-1

A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities

Shu-Hua Ni, Juan-Mei Zhang, Jun Zhao

European Journal of Ophthalmology

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Research article

First published 2015-5

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

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

Journal of Child Neurology

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Research article

First published 2016-10

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Qian Ma, Yuchi Li, Huan Guo [...]

Reproductive Sciences

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Research article

First published 2006-06

A Missense Mutation in Exon 13 in BRCA2,c.7235G>A,Results in Skipping of Exon 13

Mads Thomassen, Torben A. Kruse, Peter K.A. Jensen [...]

Genetic Testing and Molecular Biomarkers

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