Results 101 to 110 of about 172,226 (152)

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. [PDF]

PeerJ
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z.   +7 more
europepmc   +1 more source

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. [PDF]

Clin Epigenetics
Kurup U, Lim DBN, Maharaj AV, Ishida M, Davies JH, Storr HL.   +5 more
europepmc   +1 more source

Genetic and phenotypic heterogeneity of type 2 diabetes across Russian ancestry groups. [PDF]

Front Endocrinol (Lausanne)
Markelova EE, Kononenko IV, Zubritskiy A, Podshivalova E, Matrosova A, Plaksina E, Mansour S, Ahtyamov P, Shagimardanova E, Vagapova GR, Maksimova N, Sydykova LA, Avzaletdinova DS, Morugova TV, Dzhambetova PM, Shestakova MV, Mokrysheva NG, Medvedeva YA.   +17 more
europepmc   +1 more source

Age and Sex Matter: Phenotypic Heterogeneity, Diagnostic Gaps, and Screening Tool Performance in Obstructive Sleep Apnea-A 10-Year Sleep Clinic Cohort Study. [PDF]

Diagnostics (Basel)
Tzinas A, Karkala A, Kotoulas SC, Kalamaras G, Mouloudi E, Massa E, Pataka A.   +6 more
europepmc   +1 more source

Protein Homeostasis Impairment Alters Phenotypic Heterogeneity of Biofilm Communities. [PDF]

Mol Microbiol
Matavacas J, von Wachenfeldt C.
europepmc   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders. [PDF]

Mov Disord
Granath K, Huhtaniska S, Ellonen J, Pokka T, Kangas SM, Moilanen J, Helander H, Kallankari H, Komulainen-Ebrahim J, Vieira P, Rahikkala E, Guerrini R, Honkila M, Ruuska TS, Hinttala R, Suo-Palosaari M, Tolonen JP, Uusimaa J.   +17 more
europepmc   +1 more source

A Novel <i>Col4a5</i>-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating <i>COL4A5</i> Mutations in X-Linked Alport Syndrome. [PDF]

Genes (Basel)
Lin Y, Sun L, Li M, Kuang X, Gong X, Cai Q, Chen Y, Xu M, Huang W, Zeng F.   +9 more
europepmc   +1 more source

Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome. [PDF]

Sci Rep
Moscoso I, Serrano-Cruz V, Cebro-Márquez M, Vilar-Sánchez ME, Vidal-Abeijón I, Brion M, Blanco-Verea A, Martínez-Campelo L, Feijoo-Bandín S, Jiménez-Ramos V, Gimeno-Blanes JR, Sabater-Molina M, Jiménez-Jáimez J, González-Juanatey JR, Rodríguez-Mañero M, Lage R.   +15 more
europepmc   +1 more source

Mast Cell Phenotypic Heterogeneity Impacts the Interplay with Pathogenic Salmonella Typhimurium Bacteria. [PDF]

Eur J Immunol
von Beek C, Prensa GI, Andersson JHM, Pejler G, Sellin ME.   +4 more
europepmc   +1 more source