Results 131 to 140 of about 656,619 (173)

Novel compound heterozygous <i>PKHD1</i> mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations. [PDF]

Front Med (Lausanne)
Zhao J, Yu K, Huang Y.
europepmc   +1 more source

Autosomal Dominant (ADPKD) and Autosomal Recessive (ARPKD) Polycystic Kidney Disease in young adults

Giornale di Clinica Nefrologia e Dialisi
Antonio Mastrangelo
doaj   +1 more source

PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes. [PDF]

J Clin Invest
Li Z, Guo Z, Cho S, Bhardwaj R, Dong K, Fedeles S, Besse W.   +6 more
europepmc   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients. [PDF]

Orphanet J Rare Dis
Zhao M, Li F, Lu X, Zheng H, Du X.
europepmc   +1 more source

Pathophysiological significance of cholesterol in ciliopathies. [PDF]

Fujita Med J
Itabashi T, Morita T, Hirosawa M, Kobayashi D, Hasan A, Kimura S, Itoh H, Miyamoto T.   +7 more
europepmc   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report. [PDF]

Case Rep Genet
Levy E, Elliott L, Miller MA, Kramer M.
europepmc   +1 more source

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease. [PDF]

Front Cell Dev Biol
Hasan A, Morita T, Hirosawa M, Kitamura N, Murakami R, Mikuni M, Kobayashi D, Itabashi T, Miyamoto T.   +8 more
europepmc   +1 more source

Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing. [PDF]

Sci Rep
Cho HW, Kim JM, Park SH, Kim H, Shin DM, Yu HY, Yang M, Ahn SY, Sung SI, Kim BJ, Park MH, Jang MA, Chang YS, Park HY.   +13 more
europepmc   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source