Search results: Sage Journals

Open accessResearch articleFirst published July 25, 2026

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders

Martin Krenn, Axel Schmidt, Matias Wagner [...]

Journal of Neuromuscular Diseases

Open accessCase reportFirst published December 20, 2018

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

Jullianne Diaz, Cathy Scheiner, Eyby Leon

Translational Science of Rare Diseases

Restricted accessBrief reportFirst published March, 2026

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

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

Journal of Veterinary Diagnostic Investigation

Restricted accessResearch articleFirst published June, 2010

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 accessResearch articleFirst published August, 2011

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

Restricted accessResearch articleFirst published May, 2021

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

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

European Journal of Ophthalmology

Open accessArticle commentaryFirst published 2018

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

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

Open accessCase reportFirst published 2026

A novel PSEN2 missense variant in a Japanese woman with hereditary Alzheimer's disease

Kazuki Kasuga, Chinami Yuzawa, Katsuya Nakamura [...]

Journal of Alzheimer's Disease Reports

Free accessResearch articleFirst published July, 2025

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

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

Veterinary Pathology

Open accessResearch articleFirst published July, 2025

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 accessResearch articleFirst published July 25, 2026

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders

Martin Krenn, Axel Schmidt, Matias Wagner [...]

Journal of Neuromuscular Diseases

Open accessCase reportFirst published December 20, 2018

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

Jullianne Diaz, Cathy Scheiner, Eyby Leon

Translational Science of Rare Diseases

Restricted accessBrief reportFirst published March, 2026

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

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

Journal of Veterinary Diagnostic Investigation

Restricted accessResearch articleFirst published June, 2010

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 accessResearch articleFirst published August, 2011

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

Restricted accessResearch articleFirst published May, 2021

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

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

European Journal of Ophthalmology

Open accessArticle commentaryFirst published 2018

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

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

Open accessCase reportFirst published 2026

A novel PSEN2 missense variant in a Japanese woman with hereditary Alzheimer's disease

Kazuki Kasuga, Chinami Yuzawa, Katsuya Nakamura [...]

Journal of Alzheimer's Disease Reports

Free accessResearch articleFirst published July, 2025

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

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

Veterinary Pathology

Open accessResearch articleFirst published July, 2025

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