Results 141 to 150 of about 4,587 (195)

<i>TTC21B</i> variants disrupt the left-right asymmetry and pronephric development in zebrafish. [PDF]

Genes Dis
Deng L, Yang Y, Yin X, Yang J, Duan Y, Wang K, Duan W, Zhang Y, Xiong B, Zhou J.   +9 more
europepmc   +1 more source

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families. [PDF]

Eur J Hum Genet
Aleem T, Rashid M, Ahmad N, Asif MF, Tariq M, Malik NA, Poulter JA.   +6 more
europepmc   +1 more source

Monkeypox Infection in Kidney Transplant Recipients.

Kidney Blood Press Res
Sheng AQ, Zhao ZQ, Liu F, Wang JJ, Mao JH, Fu HD.   +5 more
europepmc   +1 more source

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report. [PDF]

Kidney Med
Sawada Y, Sekine A, Oba Y, Yamanouchi M, Suwabe T, Kono K, Kinowaki K, Ohashi K, Yamaguchi Y, Fujimaru T, Mori T, Sohara E, Uchida S, Wada T, Sawa N, Ubara Y.   +15 more
europepmc   +1 more source

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 more
europepmc   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Nephronophthisis

, 2018
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a ...
John A. Sayer, Roslyn J. Simms
openaire   +2 more sources