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American Journal of Human Genetics|May 1, 1986
Electrotypes and formal genetics of red cell glutathione peroxidase (GPX1) in the Djuka of SurinamP Meera Khan, C Verma, L M Wijnen, et al.American Journal of Human Genetics|May 1, 1986
An improved, efficient method for analyzing human sperm chromosomes using zona-free hamster ovaY Kamiguchi, K MikamoAmerican Journal of Human Genetics|April 25, 2023
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesisShuai Fu, Luke A D Bury, Jaejin Eum, et al.American Journal of Human Genetics|July 25, 2020
Genetic Consequences of the Transatlantic Slave Trade in the AmericasSteven J Micheletti, Kasia Bryc, Samantha G Ancona Esselmann, et al.American Journal of Human Genetics|June 27, 2020
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK BiobankWenjian Bi, Lars G Fritsche, Bhramar Mukherjee, et al.American Journal of Human Genetics|March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangementsClaudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.American Journal of Human Genetics|March 24, 2015
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspringMirjam S de Pagter, Markus J van Roosmalen, Annette F Baas, et al.American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.Pageof 979