Results 171 to 180 of about 12,198 (227)

Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration. [PDF]

Doc Ophthalmol
Pincay J, da Costa BL, Quinn PMJ, Rodriguez M, Zhou A, Kong MD, Sparrow JR, Tsang SH.   +7 more
europepmc   +1 more source

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]

, 2019
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P.M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta   +27 more
openalex   +1 more source

Renal insufficiency caused by <i>TMEM216</i> gene mutation: Case Report. [PDF]

Front Med (Lausanne)
Sun L, Xu M, Deng X, Liu X.
europepmc   +1 more source

Extrarenal manifestations in inherited kidney diseases. [PDF]

Nephrol Dial Transplant
Hoefele J, Eble J, Hermle T, Wuttke M, Schultheiss UT.   +4 more
europepmc   +1 more source

The impact of genetic testing in retinitis pigmentosa on reproductive medicine. [PDF]

Indian J Ophthalmol
Sorthiya B, Maitra P.
europepmc   +1 more source

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies. [PDF]

Kidney Int Rep
Dahmer-Heath M, Gerß J, Fliser D, Liebau MC, Speer T, Telgmann AK, Burgmaier K, Pennekamp P, Pape L, Schaefer F, Konrad M, König JC, NEOCYST Consortium.   +12 more
europepmc   +1 more source

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

, 2017
Sheila Castro‐Sánchez, María Álvarez‐Satta, M.A. Tohamy, Sergi Beltrán, Sophia Derdak, Diana Valverde   +5 more
openalex   +2 more sources

Primary cilia and cancer: a tale of many faces. [PDF]

Oncogene
Collinson R, Tanos B.
europepmc   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +1 more source

Coordination of IFT20 With Other IFT Components Is Required for Ciliogenesis. [PDF]

J Clin Lab Anal
Wang W, Shan Y, Liu R, Li D, Zhou J, Lu Q, Zhao H.   +6 more
europepmc   +1 more source