Homozygous missense mutation inMED25segregates with syndromic intellectual disability in a large consanguineous family

2014 ◽  
Vol 52 (2) ◽  
pp. 123-127 ◽  
Author(s):  
Thalita Figueiredo ◽  
Uirá Souto Melo ◽  
André Luiz Santos Pessoa ◽  
Paulo Ribeiro Nobrega ◽  
João Paulo Kitajima ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Consanguineous Family ◽  
Homozygous Missense Mutation

scholarly journals A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

2018 ◽  
Vol 33 (6) ◽  
pp. 1034-1037 ◽  
Author(s):  
M Ben Khelifa ◽  
F Ghieh ◽  
R Boudjenah ◽  
C Hue ◽  
D Fauvert ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Consanguineous Family ◽  
Meiotic Arrest ◽  
Homozygous Missense Mutation

scholarly journals Homozygous missense mutation in theLMAN2Lgene segregates with intellectual disability in a large consanguineous Pakistani family

2015 ◽  
Vol 53 (2) ◽  
pp. 138-144 ◽  
Author(s):  
Rafiullah Rafiullah ◽  
Muhammad Aslamkhan ◽  
Nagarajan Paramasivam ◽  
Christian Thiel ◽  
Ghulam Mustafa ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Pakistani Family ◽  
Homozygous Missense Mutation

scholarly journals Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

2015 ◽  
Vol 58 (4) ◽  
pp. 205-210 ◽  
Author(s):  
Mala Isrie ◽  
Masoud Zamani Esteki ◽  
Hilde Peeters ◽  
Thierry Voet ◽  
Jeroen Van Houdt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Moderate Intellectual Disability ◽  
Homozygous Missense Mutation

scholarly journals Intellectual disability associated with a homozygous missense mutation in THOC6

2013 ◽  
Vol 8 (1) ◽  
pp. 62 ◽  
Author(s):  
Chandree L Beaulieu ◽  
Lijia Huang ◽  
A Innes ◽  
Marie-Andree Akimenko ◽  
Erik G Puffenberger ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Homozygous Missense Mutation

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
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