Results 101 to 110 of about 83,787 (151)

Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort. [PDF]

Arq Bras Cardiol
Beuren T, Scolari F, Sperb-Ludwig F, Ferrari F, Rossi A, Zawislak R, van Tintelen P, Stein R.   +7 more
europepmc   +1 more source

Incidence of Arterial Hypertension is Associated with Adiposity in Children and Adolescents. [PDF]

Arq Bras Cardiol, 2023
Welser L, Pfeiffer KA, Silveira JFC, Valim ARM, Renner JDP, Reuter CP.   +5 more
europepmc   +1 more source

Late-Onset Fabry Disease: Diagnostic Challenges and Clinical Evolution. [PDF]

Arq Bras Cardiol
Mejía HPG, Madogolele HDCN, Barroso MCRD, Nogueira MCA, Morales KRP, Romero CE, Nastari L, Fernandes F.   +7 more
europepmc   +1 more source

Genetic literacy and psychological adaptation in adolescents with genetic diseases [PDF]

Rev Fac Cien Med Univ Nac Cordoba, 2021
Ortega J, Vázquez N, Arberas C.
europepmc   +1 more source

Hereditary Transthyretin Cardiac Amyloidosis Associated with Two Pathogenic Variants in the TTR Gene. [PDF]

Arq Bras Cardiol
Bonfim VH, Monteiro MM, Machado MA, Silva Junior OPD, Couceiro KDN, Fernandes F, Ferreira JMBB.   +6 more
europepmc   +1 more source

Histological and Immunohistochemical Characteristics for Hereditary Breast Cancer Risk in a Cohort of Brazilian Women. [PDF]

Rev Bras Ginecol Obstet, 2022
de Freitas RM, Guerra MR, Fayer VA, Campos AAL, Cintra JRD, Warren J, Ervilha RR, de Paula CD, Bustamante-Teixeira MT.   +8 more
europepmc   +1 more source

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant. [PDF]

J Bras Nefrol
Ribeiro L, Pompermayer M, Santos C, Coutinho J.   +3 more
europepmc   +1 more source

Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants. [PDF]

Arq Bras Cardiol, 2020
Pamplona-Cunha H, Medeiros MF, Sincero TCM, Back IC, Silva ELD.   +4 more
europepmc   +1 more source

Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine. [PDF]

Arq Bras Cardiol
Torbey AFM, Couto RGT, Grippa A, Maia EC, Miranda SA, Santos MACD, Peres ET, Costa OPS, Oliveira EM, Mesquita ET.   +9 more
europepmc   +1 more source

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. [PDF]

Hum Mutat, 2022
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF.   +48 more
europepmc   +1 more source