Results 141 to 150 of about 9,546 (191)

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

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant. [PDF]

Genet Mol Biol
Zhang Y, Huang X, Qiu P, Ji H, Ding L, He X, Shi Y, Huang Y, Li P, Mei L.   +9 more
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Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes. [PDF]

Comput Struct Biotechnol J
Mojsak P, Zmyslowska-Polakowska E, Chmielewska S, Sołowiej K, Ploszaj T, Skoczylas S, Grzybowska-Adamowicz J, Pienkowski T, Kretowski A, Zmyslowska A, Ciborowski M.   +10 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

Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia. [PDF]

J Cell Sci
Schermer B, Roepman R, Mick DU.
europepmc   +1 more source

Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene. [PDF]

HGG Adv
Arrigo A, Rao V, Ratan A, Kulkarni SS.
europepmc   +1 more source

The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease. [PDF]

Biochem Soc Trans
Herrera-Cid C, Thomsen OK, Désarbre L, Marin RB, Doganli C, Pedersen LB, Larsen LA, Christensen ST.   +7 more
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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, Habhab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 more
europepmc   +1 more source