Results 221 to 230 of about 159,600 (311)

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

European Journal of Human Genetics, 2009
P. D'Adamo, V. Guerci, Antonella Fabretto, F. Faletra, D. Grasso, L. Ronfani, M. Montico, M. Morgutti, P. Guastalla, P. Gasparini   +9 more
semanticscholar   +1 more source

Inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson's patients. [PDF]

Hum Mol Genet
Kumar M, Feldman RA.
europepmc   +1 more source

Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase.

, 1996
Robert B. Chadwick, Morgan P. Conrad, Malcolm D. McGinnis, L Johnston-Dow, Sandra L. Spurgeon, Mel N. Kronick   +5 more
openalex   +2 more sources

Major Histocompatibility Complex Heterozygote Superiority during Coinfection

Infection and Immunity, 2003
E. McClelland, D. Penn, W. Potts
semanticscholar   +1 more source

Coronary Vasospasm, an Unexpected Side Effect of Adenosine: A Case Report and Review of the Literature. [PDF]

Case Rep Cardiol
Jimidar N, Bringmans T, Saenen J, Van Craenenbroeck E.   +3 more
europepmc   +1 more source

The role of ABCB1 and CES1 genotypes on the efficacy and safety of dabigatran: a systematic review and meta-analysis. [PDF]

Hum Genomics
Aldiban W, Hamam NG, Almosilhy NA, Elsamman K, Wagdy M, Mashaly D, Batarseh SF, El-Sherif Y, Khalefa BB, Otmani Z.   +9 more
europepmc   +1 more source

Associations of Nucleoside Diphosphate-Linked Moiety X-Type Motif 15 Variants With Neutropenia During Antiviral Therapy for Cytomegalovirus Disease in Pediatric Liver Transplant Recipients. [PDF]

Transpl Infect Dis
Iwata KI, Torii Y, Fukuda Y, Haruta K, Yamaguchi M, Suzuki T, Ogura Y, Kawada JI.   +7 more
europepmc   +1 more source

Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report

, 2014
Ljudmila Nagorni-Obradović, Nela Maksimović, Predrag Miljić, Dragana Cvetković, Ruža Stević, Dragica Pešut   +5 more
openalex   +2 more sources

Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology. [PDF]

Transl Androl Urol
Yao W, Fu J, Zhang D, Chen S, Zhou Y, Jiang X, Zheng X, Zhang M, Wu F.   +8 more
europepmc   +1 more source