Results 111 to 120 of about 3,708 (168)

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity. [PDF]

Acta Derm Venereol
Gutiérrez-Cerrajero C, Gestoso-Uzal N, Ortiz-Cabrera NV, González-Sarmiento R, Hernández-Martín Á.   +4 more
europepmc   +1 more source

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +1 more source

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer? [PDF]

Cancers (Basel)
Peña-López J, Jiménez-Bou D, Ruíz-Gutiérrez I, Martín-Montalvo G, Alameda-Guijarro M, Rueda-Lara A, Ruíz-Giménez L, Higuera-Gómez O, Gallego A, Pertejo-Fernández A, Sánchez-Cabrero D, Feliu J, Rodríguez-Salas N.   +12 more
europepmc   +1 more source

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]

Case Rep Endocrinol
Calcaterra V, Lanna M, Ligato E, Dolci A, Laoreti A, Daniele I, Cattaneo E, Lista G, Savasi V, Zuccotti G.   +9 more
europepmc   +1 more source

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction. [PDF]

Front Genet
Sciacco M, Lucchiari S, Bertolasi L, Comi GP, Corti S, Ronchi D.   +5 more
europepmc   +1 more source

An AI model of transplantation risk for myelofibrosis. [PDF]

Blood
Méndez-Ferrer S.
europepmc   +1 more source

Unilateral severe gynecomastia in a 14 year-old adolescent with neurofibromatosis type 1 undergoing endoscopic mastectomy: a case report. [PDF]

Front Med (Lausanne)
Shang F, Xi B, Qiu D, Chen X, Wang Y, He M, Liu B, Zhao Z.   +7 more
europepmc   +1 more source

Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics. [PDF]

Genes (Basel)
Colombini A, Raffo V, Covone AE, Bassani T, Coviello D, Cauci S, Pallotta L, Brayda-Bruno M.   +7 more
europepmc   +1 more source

Case report and characterization of a Brazilian family with a rare hemoglobin variant-Hb Maputo. [PDF]

Hematol Transfus Cell Ther
Santos EA, Carvalho RS, Wermelinger LS.
europepmc   +1 more source