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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

Retricted access

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

Retricted access

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

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

Open access

Article commentary

First published 2018

CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

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Research article

First published 2025-7

A novel missense variant in the RELN gene in sheep with lissencephaly and cerebellar hypoplasia

Leah K. Manning, Emily Winkenwerder, Louise Baskind [...]

Veterinary Pathology

Retricted access

Brief report

First published 2023-08-15

SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer’s Disease-Associated SORL1 Missense Variants

Laetitia Miguel, Juliette Gervais, Gaël Nicolas [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2025-7

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population

Akinori Miyashita, Ai Obinata, Norikazu Hara [...]

Journal of Alzheimer’s Disease

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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