Results 131 to 140 of about 1,637 (161)

Clinical-Diagnostic and Therapeutic Advances in Feline Hypertrophic Cardiomyopathy. [PDF]

Vet Sci
Gaia de Sousa F, Mendes ACR, Carvalho LP, Beier SL.   +3 more
europepmc   +1 more source

Syndromic ciliopathy: a taiwanese single-center study. [PDF]

BMC Med Genomics
Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC.   +10 more
europepmc   +1 more source

Exploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective. [PDF]

Front Nutr
Collet TH, Schwitzgebel V.
europepmc   +1 more source

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model

Leena Patel, Ashwin Roy, Jonathan Barlow, Christopher O’Shea, Daniel Nieves, Amar J. Azad, Caitlin Hall, Benjamin Davies, Phalguni Rath, Davor Pavlović, Ashish Chikermane, Tarekegn Geberhiwot, Richard P. Steeds, Katja Gehmlich   +13 more
openalex   +1 more source

Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions. [PDF]

Genes (Basel)
Garcia CAB, Zubair M, Santos MV, Lee SH, Graham IA, Stanley V, George RD, Gleeson JG, Machado HR, Yang X.   +9 more
europepmc   +1 more source

Molecular Genetic Architecture of Morbid Obesity in Russian Children. [PDF]

Biomedicines
Minniakhmetov IR, Khusainova RI, Vasyukova OV, Kopytina DA, Yalaev BI, Salakhov RR, Guseynova RM, Peterkova VA, Mokrysheva NG.   +8 more
europepmc   +1 more source

Utilizing artificial intelligence and next-generation sequencing to facilitate the diagnosis of rare diseases. [PDF]

Clin Kidney J
Haller F, Autherith M, Lehner R, Schmidt A, Sunder-Plassmann G.   +4 more
europepmc   +1 more source

Investigation of coagulation and proteomics profiles in symptomatic feline hypertrophic cardiomyopathy and healthy control cats. [PDF]

BMC Vet Res
Jiwaganont P, Roytrakul S, Thaisakun S, Sukumolanan P, Petchdee S.   +4 more
europepmc   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source

Expression Quantitative Trait Loci for ALMS1 and Their Influence on the Symptoms of Alstrom Syndrome

INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2019
openaire   +1 more source