Results 101 to 110 of about 930 (131)

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies. [PDF]

Database (Oxford), 2023
Turan MG, Orhan ME, Cevik S, Kaplan OI.
europepmc   +1 more source

Peritoneal Dialysis for End-Stage Kidney Disease due to Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Case Report. [PDF]

Nephrology (Carlton)
Chan Z, Chan KL, Lam CK, Law WP, Pak WLW, Wong YH, Wong SSH.   +6 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

PLEK2: a potential biomarker for metastasis and prognostic evaluation in uveal melanoma. [PDF]

Front Med (Lausanne)
Liu Y, Wang H, Zhang Q, Gao X, Ji Y, Zhu Y, Zhang J, Luo W.   +7 more
europepmc   +1 more source

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation. [PDF]

Pediatr Surg Int
Salehi Karlslätt K, Pettersson M, Lagerstedt-Robinson K, Ullberg U, Lindstrand A, Nordenskjöld A.   +5 more
europepmc   +1 more source

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity. [PDF]

J Clin Pract Res
Kumru G, Altıner Ş, Karakaya A, Ekinci S, Tuncalı T, Kutlay NY, İli EG, Karabulut HG, Kutlay S, Şengül Ş, Keven K, Nergizoğlu G, Ertürk Ş, Ruhi HI, Ateş K.   +14 more
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

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History. [PDF]

Kidney Int Rep
Fujimaru T, Mori T, Sekine A, Chiga M, Mandai S, Kikuchi H, Mori Y, Hara Y, Fujiki T, Ando F, Susa K, Iimori S, Naito S, Hanazawa R, Hirakawa A, Mochizuki T, Suwabe T, Ubara Y, Uchida S, Sohara E.   +19 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

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.

Kidney Blood Press Res
Secondulfo F, Del Vecchio Blanco F, Capolongo G, Piluso G, Nigro V, Perna AF, Capasso G, Zacchia M.   +7 more
europepmc   +1 more source