Results 171 to 180 of about 8,590 (232)

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

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

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

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

Genomic and transcriptomic analyses provide new insights into the complex impacts of bud mutation in peach. [PDF]

Sci Rep
Rui G, Ping Z, Shaobin Y, Guang J, Yong L.   +4 more
europepmc   +1 more source

A Novel Recurrent 200 kb <i>CRYL1</i> Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Martínez EL, Aguiar B, Fischer A, Rad R, Costales M, Cabanillas R, Cadiñanos J.   +13 more
europepmc   +1 more source

Genome wide association analysis for birth and weaning weight in Canchim beef cattle. [PDF]

, 2015
ALENCAR, M. M. de, BUZANSKAS, M. E., GROSSI, D. A., MUNARI, D. P., REGITANO, L. C. de A., SCHENKEL, D. A., VENTURA, R.   +6 more
core  

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

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription. [PDF]

Nat Commun
Minello A, Gomez-Escudero J, Sridhara SC, Martin C, Girard E, Cañas JC, Memari Y, Bustos MR, Galarreta A, Boucherit V, Imyanitov E, Bodvarsdottir SK, Baulande S, Vincent-Salomon A, Servant N, Altmeyer M, Sigurdsson S, Stoppa-Lyonnet D, Nik-Zainal S, Carreira A.   +19 more
europepmc   +1 more source