scholarly journals Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Maria Arvio ◽  
Maria Haanpää ◽  
Pia Pohjola ◽  
Jaana Lähdetie
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Mecp2 Gene ◽  
Middle Aged

scholarly journals An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction

2018 ◽  
Vol 11 ◽  
Author(s):  
Chen Tian ◽  
Yuni Kay ◽  
Anastasiia Sadybekov ◽  
Sadhna Rao ◽  
Vsevolod Katritch ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation

scholarly journals Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

2016 ◽  
Vol 8 ◽  
Author(s):  
Philip Long ◽  
Melanie M. May ◽  
Victoria M. James ◽  
Simone Grannò ◽  
John P. Johnson ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation

scholarly journals A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability

FEBS Letters ◽  
2019 ◽  
Vol 594 (4) ◽  
pp. 717-727 ◽  
Author(s):  
Veronica M. Pravata ◽  
Mehmet Gundogdu ◽  
Sergio G. Bartual ◽  
Andrew T. Ferenbach ◽  
Marios Stavridis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Catalytic Domain ◽  
Glcnac Transferase

scholarly journals In Silico Investigation of a Missense Mutation in CLIC2 Associated with Intellectual Disability

2011 ◽  
Vol 100 (3) ◽  
pp. 611a
Author(s):  
Shawn Witham ◽  
Kyoko Takano ◽  
Charles Schwartz ◽  
Emil Alexov
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
In Silico

A novel missense mutation in the UBE2A gene Causes Intellectual Disability in the Large X‐Linked Family

2020 ◽  
Author(s):  
Saide Betül Arslan Satılmış ◽  
Emin Emre Kurt ◽  
Ebru Perim Akçay ◽  
Ali Sazci ◽  
Ahmet Cevdet Ceylan
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation
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