Results 141 to 150 of about 3,318 (192)

Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra. [PDF]

, 2023
Barbey, F., Cina, V., Fakhouri, F., Maillard, M.   +3 more
core   +1 more source

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant. [PDF]

Am J Case Rep
Thewjitcharoen Y, Nakasatien S, Veerasomboonsin V, Tsoi STF, Lim CKP, Himathongkam T.   +5 more
europepmc   +1 more source

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma [PDF]

core   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source

Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease. [PDF]

Front Genet
Yang G, Zhong H, Wen H, Shen Y.
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

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience [PDF]

, 2020
Amoroso, Antonio, Arruga, Francesca, Baldovino, Simone, Biancone, Luigi, Bracciama&apos, Bussolino, Stefania, Callegari, Martina, Cantaluppi, Vincenzo, Chiara, Benvenuta, Cocchi, Enrico, Corrado, Vitale, Cristiana, Rollino, Deaglio, Silvia, Fabio, Chiappero, Fenoglio, Roberta, Giachino, Daniela Francesca, Giovanni, Calabrese, Kalantari, Silvia, Maurizio, Borzumati, Pelle, Alessandra, Peruzzi, Licia, Rendine, Sabina, Roccatello, Dario, Sciascia, Savino, Silvana, Savoldi, Silvana, Ungari, Sorbini, Monica, Tamagnone, Michela, Togliatto, Gabriele Maria, Vaisitti, Tiziana, Vanzino, Silvia Bruna   +30 more
core   +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

Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy

Pediatric Discovery
Fahreddin Palaz
doaj   +1 more source

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait. [PDF]

Heliyon
Alhaddad ME, Mohammad A, Dashti KM, John SE, Bahbahani Y, Abu-Farha M, Abubaker J, Thanaraj TA, Bastaki L, Al-Mulla F, Al-Ali M, Ali H.   +11 more
europepmc   +1 more source