Results 71 to 80 of about 14,255 (146)

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay. [PDF]

BMC Med Genomics
Liu H, Li R, Chen C, Shang L, Bai Y, Chen D, Kong X, Li Q.   +7 more
europepmc   +1 more source

Beyond the "Dominant" and "Recessive" Patterns of Inheritance. [PDF]

Int J Mol Sci
Chatzikyriakidou A.
europepmc   +1 more source

Genetic architecture for human aggression: A study of gene–phenotype relationship in OMIM

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016
Y. Zhang-James, S. Faraone
semanticscholar   +1 more source

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1. [PDF]

Animals (Basel)
Manning LK, Eager KLM, Willet CE, Slattery S, McNally JH, Spiers ZB, Hazelton M, Child G, Duggan R, O'Rourke BA, Tammen I.   +10 more
europepmc   +1 more source

Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution. [PDF]

Liver Int
Ronzoni L, Pelusi S, Moretti V, Malvestiti F, Eidgah Torghabehei H, Jamialahmadi O, Rondena J, Bianco C, Periti G, Filippo MR, Romeo S, Prati D, Valenti L.   +12 more
europepmc   +1 more source

Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients. [PDF]

Front Reprod Health
Sharma N, Halder A, Kaushal S, Kumar M, Jain M.   +4 more
europepmc   +1 more source

Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis. [PDF]

Mol Genet Genomic Med
Wang Y, Zhou Y, Chai Y, Zang W, Wang H, Yin F, Tan Q, Chen Z.   +7 more
europepmc   +1 more source

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Genetics in Medicine, 2018
Jasmine Lee-Barber, Violet Kulo, H. Lehmann, A. Hamosh, J. Bodurtha   +4 more
semanticscholar   +1 more source

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source

Synergistic mechanism of olaparib and cisplatin on breast cancer elucidated by network pharmacology. [PDF]

Sci Rep
Niu Q, Zhang T.
europepmc   +1 more source