Results 91 to 100 of about 1,126 (118)

Causal Links Between Sleep Duration and Sarcopenia-Related Phenotypes: A Mendelian Randomization and Shared Genetic Mechanism Study. [PDF]

Am J Phys Med Rehabil
Shang H, Deng Z, Lian Y, Ai Y, Zhang J, Li G.   +5 more
europepmc   +1 more source

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development. [PDF]

Differentiation
Chern T, Tong X, Bauer WG, Quispe-Parra DJ, Gao X, Gerner-Mauro KN, Poché RA.   +6 more
europepmc   +1 more source

From Thanatos to transcription: the emerging biology of THAP proteins. [PDF]

Cell Mol Life Sci
Rampal B, Brisson A, Ben Hamou Kuijpers L, Cappadocia L, Samarut É.   +4 more
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

A case report of 'Two-Hit' digenic mutations in PAH: role of PADN in management. [PDF]

Front Pharmacol
Zhang ZQ, Qin ZQ, Zhu SK, Zuo YH, Ding JW.   +4 more
europepmc   +1 more source

Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China. [PDF]

Front Neurol
Fan C, Xu L, Gan S, Wu L, Yang H, Ning Z.   +5 more
europepmc   +1 more source

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source

Identification and validation of crotonylation-related diagnostic markers for lung adenocarcinoma via weighted correlation network analysis and machine learning. [PDF]

Transl Lung Cancer Res
Hu B, Chen X, Zou D, Du X, Feng S, Shen Y, Sha X, Jiang F, Zhou G, Lin F, Käsmann L, Shen B.   +11 more
europepmc   +1 more source

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. [PDF]

J Transl Med
Zhao Z, Zhao G, Li S, Yuan C, Feng J, Tang W, Fu X, Li H, Zhu J, Zhao X, Wu D, Kong X.   +11 more
europepmc   +1 more source

Five children with haploinsufficiency of A20 caused by heterozygous mutations in the <i>TNFAIP3</i> gene. [PDF]

Front Immunol
Yao H, Liu Y, Dong M, Yang K, Yu Z, Zhou F.   +5 more
europepmc   +1 more source