Results 161 to 170 of about 7,265 (207)

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

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

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR). [PDF]

Int J Mol Sci
Yeste D, Baz-Redón N, Antolín M, Garcia-Arumí E, Mogas E, Campos-Martorell A, González-Llorens N, Aguilar-Riera C, Soler-Colomer L, Clemente M, Fernández-Cancio M, Camats-Tarruella N.   +11 more
europepmc   +1 more source

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID. [PDF]

J Clin Immunol
Goebel GA, Cunha LAO, Minafra FG, Pinto JA.   +3 more
europepmc   +1 more source

Differences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar microlithiasis-case series and a systematic review. [PDF]

Ther Adv Respir Dis
Guo M, Hua L, Bai W, Wang X, Wang D, Chen L, Liu B, Xie M.   +7 more
europepmc   +1 more source

Inbreeding load in finite populations from dominant and overdominant mutations. [PDF]

Proc Biol Sci
González-Castellano I, García-Dorado A, Caballero A.   +2 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  

Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems. [PDF]

Clin Transl Oncol
García-Simón N, Valentín F, Royuela A, Hidalgo-Calero B, Blázquez-Martín R, de-Miguel-Reyes M, Sánchez-Zapardiel JM, Adán-Merino L, Rodríguez-Festa A, Gallego-Gil P, Mediavilla-Medel P, Quiñonero-Moreno L, Gutiérrez L, Herreros-de-Tejada A, Sánchez A, Provencio M, Romero A.   +16 more
europepmc   +1 more source