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Human Molecular Genetics|August 13, 2024
Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoformsLadan Kalani, Bo-Hyun Kim, Alberto Ruiz de Chavez, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
Evolution; International Journal of Organic Evolution|April 24, 2012
Do trade-offs have explanatory power for the evolution of organismal interactions?Mark K Asplen, Emily Bruns, Aaron S David, et al.
Journal of Molecular Biology|July 27, 2001
Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversityM L Carroll, A M Roy-Engel, S V Nguyen, et al.
Circulation. Cardiovascular Genetics|August 28, 2012
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 geneJosepha S Binder, Frank Weidemann, Benedikt Schoser, et al.
Lupus|October 11, 2018
Urinary B-cell-activating factor of the tumour necrosis factor family (BAFF) in systemic lupus erythematosusF B Vincent, R Kandane-Rathnayake, A Y Hoi, et al.
Human Molecular Genetics|June 22, 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani familyMuzammil A Khan, Verena M Rupp, Meritxell Orpinell, et al.
Psychiatry Research|July 19, 2022
Epigenetic age dysregulation in individuals with bipolar disorder and schizophreniaRichie Jeremian, Alexandra Malinowski, Zanib Chaudhary, et al.
Addictive Behaviors|July 24, 2017
Perceived academic benefit is associated with nonmedical prescription stimulant use among college studentsAmelia M Arria, Irene M Geisner, M Dolores Cimini, et al.
Journal of Genetics|August 13, 2025
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani populationMuzammil Ahmad Khan, Jasmin Blatterer, Markus Kuster, et al.
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