Results 111 to 120 of about 3,874 (165)

Editorial: Studying rare diseases using induced pluripotent stem cell (iPSC)-based model systems. [PDF]

Front Cell Dev Biol
Francis KR, Chen G, Kiris E.
europepmc   +1 more source

Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms. [PDF]

Med Genet
Halbritter J, Simons M.
europepmc   +1 more source

Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion. [PDF]

Kidney Int Rep
Barichello RS, Hung JY, Mallett AJ, Schmitz U.   +3 more
europepmc   +1 more source

<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

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 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

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

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