Results 111 to 120 of about 656,619 (173)

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD. [PDF]

BMC Nephrol
Lee DH, Park J, Kim HH, Kim JK.
europepmc   +1 more source

Congenital hepatic fibrosis in an adult female combined with Von Meyenburg complex and autosomal dominant polycystic kidney disease: a case report. [PDF]

Front Gastroenterol (Lausanne)
Ren X, Cui Y, Song J, Tang Y, Xie X, Zhu W, Yu Z, Huang L, Gao Y.   +8 more
europepmc   +1 more source

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +1 more source

Congenital hepatic fibrosis and related ciliopathies across the life course: current management, disease burden, and unmet needs in the era of genomic diagnosis and translational therapeutics. [PDF]

Front Pediatr
Wang A, He J, Liu K, Fu J, Chen J.
europepmc   +1 more source

Comparison of genetic profile and kidney outcomes between very early-onset and non-very-early-onset autosomal dominant polycystic kidney disease in children: a systematic review and meta-analysis. [PDF]

BMC Nephrol
Kapogiannis C, Dimakopoulos G, Kapogiannis A, Marlais Μ.   +3 more
europepmc   +1 more source

Kidney organoids as models for hereditary kidney diseases: Toward precision medicine (Review). [PDF]

Exp Ther Med
Cui S, Chen T, Zou Y, Li M, Zhou H, Jiang J, Yang M.   +6 more
europepmc   +1 more source

Combined Liver-Kidney Transplantation in Pediatric Patients From Colombia: A Case Series. [PDF]

Pediatr Transplant
Padilla-Guzmán A, Ortega-Gamboa SA, Forero-Delgadillo JM, Ochoa-Jiménez VA, Portilla-Buenaventura AM, Mateus CJC, Botero-Osorio V, Pachajoa H, Restrepo JM.   +8 more
europepmc   +1 more source

The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis. [PDF]

Child Kidney Dis
Jang S, Lee H.
europepmc   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report. [PDF]

Am J Case Rep
Manasar-Dyrbuś M, Stojko R, Paul-Samojedny M, Winkowska E, Staniczek J.   +4 more
europepmc   +1 more source