Results 181 to 190 of about 8,590 (232)

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

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

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

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

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

Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern. [PDF]

Genes (Basel)
Marzano N, Caprara C, Reis T, Montin DP, Pretto SM, Rigato M, Giuliani A, Gastaldon F, Mancini B, Ronco C, Zanella M, Zuccarello D, Corradi V.   +12 more
europepmc   +1 more source

Management of Thrombosis in a Patient with Three Thrombophilic Disorders. [PDF]

J Blood Med
Marco-Rico A, Mantilla Pinilla AJ, Corral J, Marco-Vera P.   +3 more
europepmc   +1 more source

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype. [PDF]

PLoS Genet
Vall-Palomar M, Torchia J, Morata J, Durán M, Tonda R, Ferrer M, Sánchez A, Cantero-Recasens G, Ariceta G, Meseguer A, Martinez C.   +10 more
europepmc   +1 more source

Testis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.

J Clin Endocrinol Metab
Alfano M, Tascini AS, Pederzoli F, Venegoni C, Locatelli I, Lesma A, Fallara G, Boeri L, Pozzi E, Negri F, Colecchia M, Pontillo M, Montorsi F, Garcia-Manteiga JM, Salonia A.   +14 more
europepmc   +1 more source

High Prevalence ofSOD1Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS

Gagliardi D, Villella C, Zanovello M, Iacobelli V, Corti S, Comi GP, Fratta P, Fratta P, Houlden H, Tucci A, Ronchi D.   +10 more
europepmc   +1 more source