Results 201 to 210 of about 16,795 (294)

The digital epidemiology of dysencephalia splanchnocystica, AKA meckel–gruber syndrome: Retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Ahmed Al-Imam
doaj   +1 more source

Novel homozygous <i>C3orf67</i> gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. [PDF]

World J Exp Med
Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM.   +7 more
europepmc   +1 more source

LRGUK: a new candidate for retinal ciliopathies?

, 2018
Sybille Boehm, Elvir Bećirović, Andreas Gießl   +2 more
openalex   +1 more source

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome [PDF]

Kévin Perge, Émilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc Nicolino   +5 more
openalex   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

Photoreceptor Cilia and Retinal Ciliopathies.

Cold Spring Harbor Perspectives in Biology, 2017
K. Bujakowska, Qin Liu, E. Pierce
semanticscholar   +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

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

A Fetus with Ciliopathy Caused by a <i>RSPH4A</i> Variant Diagnosed Due to Increased Ventricular Size. [PDF]

J Med Ultrasound
Zhen L, Li DZ.
europepmc   +1 more source

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

, 2009
Monique Jacoby, James J. Cox, Stéphanie Gayral, Daniel J. Hampshire, Muhammad Ayub, Marianne Blockmans, Eileen Pernot, Marina V. Kisseleva, Philippe Compère, Serge N. Schiffmann, Fanni Gergely, John Riley, David Pérez‐Morga, C. Geoffrey Woods, Stéphane Schurmans   +14 more
openalex   +2 more sources