Results 171 to 178 of about 1,877 (178)

Symptomatic Hypokalemia Due to NPHP1-Associated Nephronophthisis

Indian Journal of Pediatrics
Pengfei, Wu, Xiaojian, Mao, Duan, Li, Wen, Zhang   +3 more
openaire   +2 more sources

An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis

Human Molecular Genetics, 2021
Albert C M Ong, Liangzhong Sun, Huamu Chen   +2 more
exaly  

A case report of two Chinese monozygotic twins with gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor

Transplant Immunology, 2023
Tao Qiu, Jiangqiao Zhou, Yiting Liu
exaly  

Prevalence and incidence estimation of large homozygous deletion in Tunisian population

Pathologie Et Biologie, 2012
M Kharrat, R Goucha, H Chaabouni
exaly  

Clinical Spectrum of Disease in Patients with Large Homozygous NPHP1 Gene Deletions

Journal of the American Society of Nephrology
John Andrew Sayer, Ken Saida, Daniel Marchuk, Kraisoon Lomjansook, Gijs AC Franken, Chiranth M Prakash, Korbinian M. Riedhammer, Elena Zion, Becca Nelson, Florian Buerger, Friedhelm Hildebrandt   +10 more
openaire   +1 more source

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Clinical Case Reports (discontinued), 2019
Toshio Mochizuki, Sekiko Taneda, Eisei Sohara   +2 more
exaly  

Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion

Clinical Pediatrics
Zihua Yu
exaly  

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Frontiers in Cell and Developmental Biology
Tadayoshi Hayata, Yohei Hayashi, Mami Matsuo-Takasaki   +2 more
exaly