Results 121 to 130 of about 22,844 (195)

A Study of Heredity of Insanity in the light of the Mendelian theory. [PDF]

, 1911
Rosanoff, Aaron, Rosanoff, Florence
core  

Molecular mechanisms of <i>TTC21B</i> gene mutations in nephronophthisis type 12 and genetic prevention through PGT. [PDF]

Front Genet
Deng K, Li J, Hu X, Wei H, Wang C, Cheng Q, Jiang Y, Cai L, Tang D, Cao G, Wang X.   +10 more
europepmc   +1 more source

Integrative linkage and recombination analysis of 25 X-STRs across 7 linkage groups using pedigree-based and SNP-based strategies. [PDF]

Front Genet
Qian J, Qian X, Ji Q, Li Z, Shao C, Xu H, Yang F, Xie J.   +7 more
europepmc   +1 more source

Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques. [PDF]

Genome Biol
Ray K, Mulch C, Peterson SM, Benjamin S, Gullicksrud N, Ericsen AJ, Vallender EJ, Ferguson BM, Wall JD, Bimber BN.   +9 more
europepmc   +1 more source

Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom. [PDF]

Cureus
Pallas D, Betsikos A, Zafeirouli V, Geladari V, Sabanis N.   +4 more
europepmc   +1 more source

A novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review. [PDF]

Medicine (Baltimore)
Yang B, Zhou L, Ye C, Wang C, Lan X, Liu W, Chen P, Liu J.   +7 more
europepmc   +1 more source

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease. [PDF]

Front Genet
Xu J, Chen E, Shi W, He W, Yu D, Li X.
europepmc   +1 more source

Case Report: Biallelic variants in <i>MRPS36</i>, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome. [PDF]

Front Pediatr
Jiang H, Xu C, Liu Z, Duan R, Yao X, Fu X, Xu J, Kang X, Yu T, Wang Y, Fang F.   +10 more
europepmc   +1 more source

Surveillance of a <i>PLOD</i> gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies. [PDF]

J Vet Res
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.   +4 more
europepmc   +1 more source

A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection. [PDF]

Cureus
Kubo R, Iwamoto Y, Ajihara S, Murayama K, Ohtake A, Fujinuma S, Sugiyama K, Ishido H, Korematsu S, Masutani S.   +9 more
europepmc   +1 more source