Results 71 to 80 of about 6,144 (119)

Identification of Pathogenic <i>PKHD1</i> Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman. [PDF]

F1000Res
Al Alawi I, Al Awadi M, Al Awaid F, Pillai J, Sampson M, Arcila Galvis JE, Al Maimani A, Al Hashmi Z, Sayer JA.   +8 more
europepmc   +1 more source

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family. [PDF]

Medicine (Baltimore)
Qian C, Yan J, Huang X, Wang Z, Lin F.
europepmc   +1 more source

Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period. [PDF]

CEN Case Rep
Inoki Y, Nishi K, Osaka K, Kaneda T, Akiyama M, Sato M, Ogura M, Ide K, Kamei K.   +8 more
europepmc   +1 more source

[Autosomal recessive polycystic kidney disease in a girl]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xu XY, Zhou QM, Tian YF, Zhao Q, Pan H, Chen QT, Luo YM, Guo ZZ, Li TH, Yang JH.   +9 more
europepmc   +1 more source

Assessing the potential of <i>DZIP1L</i> gene in autosomal recessive polycystic kidney disease gene therapy. [PDF]

Pediatr Discov
Palaz F.
europepmc   +1 more source

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. [PDF]

Am J Kidney Dis
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E.   +24 more
europepmc   +1 more source

Autosomal recessive polycystic kidney disease

, 2019
openaire   +1 more source

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Nephron
Henein M, Russo F, Sentell ZT, Goupil R, Kitzler TM.   +4 more
europepmc   +1 more source

Autosomal recessive polycystic kidney disease

, 2011
openaire   +1 more source

Reversal of elevated Gli3 in Autosomal Recessive Polycystic Kidney Disease does not alter cystogenesis

Russell LG, Kolatsi-Joannou M, Wilson L, Chandler JC, Tejedor NP, Stagg G, Price KL, Rowan CJ, Crompton T, Rosenblum ND, Winyard PJ, Long DA.   +11 more
europepmc   +1 more source