Results 221 to 230 of about 9,301 (255)

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. [PDF]

Eur J Hum Genet
Singh S, Nampoothiri S, Narayanan DL, Chaudhry C, Salvankar S, Girisha KM.   +5 more
europepmc   +1 more source

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]

Yonago Acta Med
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.   +5 more
europepmc   +1 more source

A scientific case for revisiting the embryonic chicken model in biomedical research

McGrew MJ, Holmes T, Davey MG.
europepmc   +1 more source

Editorial: Molecular mechanisms of cilia related diseases. [PDF]

Front Mol Biosci
Carvalhal S, Carmona B, Tassin AM, Gonçalves J.   +3 more
europepmc   +1 more source

Characteristic craniofacial defects associated with a novel USP9X truncation mutation. [PDF]

Hum Genome Var
Nagata N, Kurosaka H, Higashi K, Yamaguchi M, Yamamoto S, Inubushi T, Nagata M, Ishihara Y, Yonei A, Miyashita Y, Asano Y, Sakai N, Sakata Y, Kawabata S, Yamashiro T.   +14 more
europepmc   +1 more source

Loss of the Reissner Fiber and increased URP neuropeptide signaling underlie scoliosis in a zebrafish ciliopathy mutant

, 2019
Christine Vesque, Isabelle Anselme, Guillaume Pézeron, Yasmine Cantaut-Belarif, Alexis Eschstruth, Morgane Djebar, Diego López Santos, Hélène Le Ribeuz, Arnim Jenett, Hanane Khoury, Joëlle Véziers, Caroline Parmentier, Sylvie Schneider‐Maunoury   +12 more
openalex   +1 more source

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization. [PDF]

Genet Med
Beckwith MA, Danis D, Bridges Y, Jacobsen JOB, Smedley D, Robinson PN.   +5 more
europepmc   +1 more source

Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases. [PDF]

Cureus
Padmanabhan K, Ashish S, Vijayan N, Hemanthkumar SM.   +3 more
europepmc   +1 more source

ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis. [PDF]

JPGN Rep
Ben Sabbahia D, Atrasssi M, Bennani N, Benmoussa A, Abkari A.   +4 more
europepmc   +1 more source

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration. [PDF]

Ophthalmic Genet
Borchert GA, Shanks ME, Whitfield J, Clouston P, Raji S, Sperring S, Thompson JA, Xue K, De Silva SR, Downes SM, MacLaren RE, Cehajic-Kapetanovic J.   +11 more
europepmc   +1 more source