scholarly journals GPR126 : A novel candidate gene implicated in autosomal recessive intellectual disability

2018 ◽  
Author(s):  
Masoumeh Hosseini ◽  
Zohreh Fattahi ◽  
Seyedeh Sedigheh Abedini ◽  
Hao Hu ◽  
Hans‐H. Ropers ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Autosomal Recessive

scholarly journals Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

2018 ◽  
Vol 176 (7) ◽  
pp. 1602-1609 ◽  
Author(s):  
Saud Alsahli ◽  
Stefan T. Arold ◽  
Ahmed Alfares ◽  
Bader Alhaddad ◽  
Mohammed Al Balwi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Autosomal Recessive

scholarly journals Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

2011 ◽  
Vol 20 (13) ◽  
pp. 2585-2590 ◽  
Author(s):  
F. Ropers ◽  
E. Derivery ◽  
H. Hu ◽  
M. Garshasbi ◽  
M. Karbasiyan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Autosomal Recessive

scholarly journals The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

2016 ◽  
Vol 80 (6) ◽  
pp. 342-368 ◽  
Author(s):  
Muzammil Ahmad Khan ◽  
Saadullah Khan ◽  
Christian Windpassinger ◽  
Muhammad Badar ◽  
Zafar Nawaz ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Molecular Genetics ◽  
Autosomal Recessive

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

2013 ◽  
Vol 85 (4) ◽  
pp. 390-392
Author(s):  
S. Dad ◽  
E. Østergaard ◽  
K.A. Wadt ◽  
J. Lunding ◽  
H. Eiberg ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Consanguineous Family

scholarly journals Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

2015 ◽  
Vol 36 (10) ◽  
pp. 1015-1019 ◽  
Author(s):  
Catrina M. Loucks ◽  
Jillian S. Parboosingh ◽  
Ranad Shaheen ◽  
Francois P. Bernier ◽  
D. Ross McLeod ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Autosomal Recessive

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly

2018 ◽  
Vol 61 (12) ◽  
pp. 729-732 ◽  
Author(s):  
Mara Cavallin ◽  
Camille Maillard ◽  
Marie Hully ◽  
Marion Philbert ◽  
Nathalie Boddaert ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Autosomal Recessive

scholarly journals Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

2019 ◽  
Vol 21 (8) ◽  
pp. 1790-1796 ◽  
Author(s):  
Zafar Iqbal ◽  
Hasan Tawamie ◽  
Wei Ba ◽  
André Reis ◽  
Bassam Al Halak ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Loss Of Function
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