Results 91 to 100 of about 270 (141)

Sporadic Kindler syndrome with a novel mutation. [PDF]

An Bras Dermatol, 2013
Almeida HL, Heckler GT, Fong K, Lai-Cheong J, McGrath J.   +4 more
europepmc   +1 more source

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy. [PDF]

Arq Bras Cardiol, 2017
Rafael JF, Cruz FEDS, Carvalho ACC, Gottlieb I, Cazelli JG, Siciliano AP, Dias GM.   +6 more
europepmc   +1 more source

[Neonatal screening for hemoglobinopathies in São Carlos, São Paulo, Brazil: analysis of a series of cases]. [PDF]

Rev Paul Pediatr, 2015
Silva Cde A, Baldim LB, Nhoncanse GC, Estevão Ida F, Melo DG.   +4 more
europepmc   +1 more source

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. [PDF]

Arq Bras Cardiol, 2016
Mattos BP, Scolari FL, Torres MA, Simon L, Freitas VC, Giugliani R, Matte Ú.   +6 more
europepmc   +1 more source

Molecular approach of auditory neuropathy. [PDF]

Braz J Otorhinolaryngol, 2015
Silva MA, Piatto VB, Maniglia JV.
europepmc   +1 more source

Clinical management of subjects with heterozigosity MZ for Alpha1-antitrypsin deficiency: a systematic review

Shortness of Breath, 2016
openaire   +1 more source

Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis. [PDF]

J Bras Pneumol, 2013
Coutinho CA, Marson FA, Ribeiro AF, Ribeiro JD, Bertuzzo CS.   +4 more
europepmc   +1 more source

Pregnancy-associated venous thromboembolism in combined heterozygous factor V Leiden and prothrombin G20210A mutations. [PDF]

Sao Paulo Med J, 2005
Couto E, Nomura ML, Barini R, Pinto e Silva JL.   +3 more
europepmc   +1 more source