Results 131 to 140 of about 8,699 (199)

Cilium-by-cilium: unveiling hidden proteomic diversity and the molecular basis of ciliopathies. [PDF]

Signal Transduct Target Ther
Chiong M, Li H, Lavandero S.
europepmc   +1 more source

Tubulin glutamylation: a key regulator of flagella, cilia, centrosomes, and disease pathways. [PDF]

J Biomed Sci
Chen SC, Chuang YC, Lin YC.
europepmc   +1 more source

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

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. [PDF]

J Cell Sci
Bachmann-Gagescu R, Sayer JA.
europepmc   +1 more source

Bronchiectasis in a child with a homozygous <i>DCDC2</i> gene mutation: A case report. [PDF]

J Taibah Univ Med Sci
AlSaedi KS, Mazi AA.
europepmc   +1 more source

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts. [PDF]

Genome Med
Favier A, Chounta S, Garcia A, Jabot-Hanin F, Chen X, Garcelon N, Burgun A, Higueras M, Guilloux A, Benmerah A, Martin Y, Billot K, Rozet JM, Perrault I, Cormier-Daire V, Huber C, Zaidan M, Attie-Bitach T, Saunier S, Rausell A.   +19 more
europepmc   +1 more source

Knockdown of <i>armc3</i> Impairs Motile Cilia Function in <i>Schmidtea mediterranea</i>. [PDF]

MicroPubl Biol
Gogoi C, Pitt R, Mazur K, Naraharisetti R, Johnson K.   +4 more
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Primary ciliary dyskinesia phenotypes and correlation with genotype. [PDF]

Curr Opin Pulm Med
Horani A, Wee W, Omran H, Ferkol T.
europepmc   +1 more source

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 more
europepmc   +1 more source