Results 121 to 130 of about 2,695 (146)

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

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation. [PDF]

Genes (Basel)
Luppino G, Wasniewska M, Giordano M, Pepe G, Morabito LA, Porri D, Aversa T, Corica D.   +7 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

Construction of a TP53 mutation-associated ceRNA network as prognostic biomarkers in hepatocellular carcinoma. [PDF]

Heliyon
Wang D, Shi W, Qiu C.
europepmc   +1 more source

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]

Ann Med Surg (Lond)
Ghimire S, Simkhada S, Thapa S, Ghising K.   +3 more
europepmc   +1 more source

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies. [PDF]

Mol Med
Liu X, Pacwa A, Bresciani G, Swierczynska M, Dorecka M, Smedowski A.   +5 more
europepmc   +1 more source