Results 201 to 210 of about 15,020 (275)

Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder. [PDF]

PLoS One
Zhao K, Yuan L, Xiong Y, Xia H, Deng S, Chen M, Liao Y, Wang J, Deng H.   +8 more
europepmc   +1 more source

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity. [PDF]

NPJ Genom Med
Sangermano R, Fujinami K, Byeon SH, Place EM, Navarro J, Valensi J, Khateb S, Banin E, Condroyer C, DiTroia S, Sharon D, Zeitz C, Audo I, Bujakowska KM, Han J.   +14 more
europepmc   +1 more source

Case Report: Different faces of LRBA deficiency in five Moroccan families. [PDF]

Front Immunol
Hbibi M, Elamine A, Benhsaien I, Idrissi ML, Tizki S, Bakkouri JE, Hida M, Ailal F, Bousfiha AA.   +8 more
europepmc   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance. [PDF]

Clin Genet
Li J, Hou X, Wang X, Li J, Li L, Ma X.
europepmc   +1 more source

Expanding the clinical and genetic spectrum of <i>RHO</i>-associated retinitis pigmentosa. [PDF]

Exp Biol Med (Maywood)
Amaral RAS, Zin OA, Resende RG, Moraes DN, Salles MV, Rodrigues GD, Motta FL, Sallum JMF.   +7 more
europepmc   +1 more source

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review. [PDF]

Invest Ophthalmol Vis Sci
Liu S, Li S, Wang Y, Sun W, Hejtmancik JF, Zhang Q.   +5 more
europepmc   +1 more source

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis. [PDF]

Mol Genet Metab Rep
Bin Hadyan MF, Saleh MA, Aldalaqan S, Mushiba AM, Alasmari AM, Faqeih EA, Peer-Zada AA.   +6 more
europepmc   +1 more source

Utility of Targeted RNA Analysis in Neurogenetic Disorders. [PDF]

Neurol Genet
Ichikawa S, Yergert K, Gasser B, Towne MC, Burow D.   +4 more
europepmc   +1 more source

Long-term exposure to PM_2·5 constituents and incident cancer among Medicare beneficiaries in the USA: a national cohort study. [PDF]

Lancet Planet Health
Feng Y, Jin T, Wei Y, Steenland K, Schwartz J.   +4 more
europepmc   +1 more source

Additive effect of multiple genetic variants in <i>SEC23B</i> and <i>PIEZO1</i> on iron metabolism dyshomeostasis in hereditary anemias. [PDF]

Hemasphere
Nostroso A, Marra R, Rosato BE, Iscaro A, Esposito FM, D'Onofrio V, Dionisi M, Ribersani M, Giordano F, Bulla A, Del Vecchio GC, Scianguetta S, Mandrile G, Ceglie T, Scudiero O, Ferrero GB, Perrotta S, Iolascon A, Andolfo I, Russo R.   +19 more
europepmc   +1 more source