Results 171 to 180 of about 6,532,899 (237)

Bioinformatic strategies in metagenomics of chronic prostatitis. [PDF]

World J Urol
Davasaz Tabrizi E, Sevil M, Arican E.
europepmc   +1 more source

Single-Nucleotide Polymorphisms of BRCA1 and BRCA2 and Risk of Papillary Thyroid Carcinoma. [PDF]

Cancers (Basel)
Song CM, Kim YJ, Cheong HS, Ji YB, Tae K.   +4 more
europepmc   +1 more source

Dominant <i>RDH12</i>-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids. [PDF]

Front Cell Dev Biol
Méjécase C, Zhou Y, Owen N, Soro-Barrio P, Cheloni R, Nair N, Sarkar H, Toualbi L, Moosajee M.   +8 more
europepmc   +1 more source

The Genetic Mechanisms and Pathology of Atrial Fibrillation: A Narrative Review. [PDF]

Biomedicines
Zito E, Bianchini L, Sommariva E, Costa M, Forleo GB, Tondo C, Schiavone M.   +6 more
europepmc   +1 more source

An introduction of dominant genes in genetic algorithm for FMS

, 2008
Felix T.S. Chan, S. Chung, L. Chan
semanticscholar   +1 more source

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. [PDF]

PLoS One
Gaouzi Z, Belkhayat A, Takki ZC, Lachraf H, Diawara I, Kriouile Y.   +5 more
europepmc   +1 more source

A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52). [PDF]

Genes (Basel)
Niyoyita S, Uwibambe E, Ndinkabandi J, Sesonga P, Niyongere JB, Tuyishimire B, Urugwiro A, Rwamatwara A, Isingizwe G, Mutamuliza J, Nsanzabaganwa C, Bukuru J, Rutagarama F, Mukaruziga A, Karangwa O, Ndatinya A, Nsanzabera M, Dukuze N, Mutesa L.   +18 more
europepmc   +1 more source

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

Badonyi M, Marsh JA.
europepmc   +1 more source

Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders. [PDF]

Genome Med
Wijnant KN, Nadif Kasri N, Vissers LELM.
europepmc   +1 more source

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs). [PDF]

Biomedicines
D'Esposito F, Capobianco M, Gagliano C, Avitabile A, Gagliano G, Esposito G, Dammino E, Carotenuto A, Zeppieri M.   +8 more
europepmc   +1 more source