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American Journal of Medical Genetics. Part A|October 18, 2016
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changesFarah R Zahir, Tracy Tucker, Sonia Mayo, et al.
American Journal of Human Genetics|April 25, 2017
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and EpilepsyMyriam Srour, Noriaki Shimokawa, Fadi F Hamdan, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature reviewNancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, et al.
Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.
Science Advances|May 12, 2023
Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor controlSabrina Schlienger, Patricia T Yam, Nursen Balekoglu, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
De novo variants in sporadic cases of childhood onset schizophreniaAmirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 11, 2008
Novel de novo SHANK3 mutation in autistic patientsJulie Gauthier, Dan Spiegelman, Amélie Piton, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 17, 2010
M3-muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1Kok Choi Kong, Adrian J Butcher, Phillip McWilliams, et al.
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