Results 111 to 120 of about 97,051 (153)

Brugada Syndrome: 30 Years of Scientific Ventures. [PDF]

Arq Bras Cardiol, 2023
Brugada P.
europepmc   +1 more source

Novel Mutation in DSP Gene - A Case of Arrhythmogenic Cardiomyopathy with Isolated Left Ventricular Phenotype and High Risk of Sudden Cardiac Death. [PDF]

Arq Bras Cardiol, 2021
Leite PVH, Azevedo O, Dias G, Cardoso F, Pereira T, Lourenço A.   +5 more
europepmc   +1 more source

TBK1 mutation and its role in frontotemporal dementia and amyotrophic lateral sclerosis in Brazilian families. [PDF]

Dement Neuropsychol
Argelazi RL, Graça SC, Thomazoni PV, Moura CB, Gomes AC, Kormanski MK, de Almeida SSC, Ferreira YD, Santos DH.   +8 more
europepmc   +1 more source

PRKAG2 Syndrome: Is Screening with Early Echocardiography Effective in Children with a Positive Genotype? [PDF]

Arq Bras Cardiol
Assunção MELSM, da Silva NLCL, Silva MPM.   +2 more
europepmc   +1 more source

Genetic screening of FFPE breast cancer biopsies for the <i>BRCA1</i>-185delAG mutation in Trinidad and Tobago. [PDF]

Rev Panam Salud Publica
Abrahim SC, Bansraj D, Edwards R, Thompson R, Rambaran R, Roach A, Warner WA, Chalapathi Rao AV, Unakal C, Haraksingh RR.   +9 more
europepmc   +1 more source

Acute Myocarditis as the Initial Presentation of Desmoplakin Mutation - Broadening the Differential Diagnosis. [PDF]

Arq Bras Cardiol
Koike H, Idris A, Berger J, Cheng VY, Sengupta J, Cavalcante JL.   +5 more
europepmc   +1 more source

Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations. [PDF]

Arq Bras Oftalmol, 2023
Abe RY, Makarczyk LSQ, Ávila MP, Sallum JMF.   +3 more
europepmc   +1 more source

Adult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma. [PDF]

J Bras Nefrol
Mathew GG.
europepmc   +1 more source

Reflections on Survival Rates in Patients with Brugada PhenocopyReply. [PDF]

Arq Bras Cardiol
Barbosa GS, Alencar JN, Baranchuk A.
europepmc   +1 more source

MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW. [PDF]

Arq Bras Cir Dig, 2023
Kanno DT, Mattos RLM, Campos FG, Siqueira RM, Carvalho RB, Real Martinez CA.   +5 more
europepmc   +1 more source