Results 121 to 130 of about 4,241 (146)

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly. [PDF]

Front Pediatr
Zhuang J, Wang J, Huang Z, Chen Y, Chen C.   +4 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

Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review. [PDF]

BMC Pediatr
Zhen Z, Dong Z, Gao L, Wang Q, Chen X, Na J, Yuan Y.   +6 more
europepmc   +1 more source

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy. [PDF]

J Cell Sci
Sudhindar PD, Olinger E, Sentell ZT, Mabillard H, Dicka B, Wood K, Rutland D, Collins C, Trevisan-Herraz M, Sayer JA, Arcila-Galvis JE.   +10 more
europepmc   +1 more source

Clinical Application of Genetic Testing in Nephrology. [PDF]

Indian J Nephrol
Jeemon G, Jayram JK, Ganesh K, Kumar JS, Simon S, Abraham MA.   +5 more
europepmc   +1 more source

NPHP Gene Related Nephronophthisis in Bahrain: Case Series and Literature Review

Khadija M Alshehabi
openalex   +1 more source

Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease. [PDF]

Biochem Soc Trans
Baker MJ, Yek KQ, Stojanovski D.
europepmc   +1 more source

Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics. [PDF]

Kidney Med
Daga A, Morales AL, Shril S, Benoit E, Pantel D, Aguilar-González A, García M, Onuchic-Whitford AC, Lou-Meda R, Hildebrandt F.   +9 more
europepmc   +1 more source

Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]

Sci Rep
Bresch J, König J, Konrad M, Kollmann S, Dahmer-Heath M, Heinzow HS, Praktiknjo M, Trebicka J, Bergmann C, Schmidt HH, Schlevogt B.   +10 more
europepmc   +1 more source

WCN25-1253 SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS

Kidney International Reports
Praveen Dhondurao Sudhindar, Elisa molinari, Colin Johnson, Colin Miles, John Sayer   +4 more
doaj   +1 more source