Results 111 to 120 of about 8,898 (165)

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

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

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

The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America. [PDF]

Genet Med Open
Diaz Caro D, Simone L.
europepmc   +1 more source

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases. [PDF]

Dement Neuropsychol
Diniz JRG, de Almondes KM, Godeiro C, Silva RAE.   +3 more
europepmc   +1 more source

Multi-Gene Panel Testing in Gastroenterology: Are We Ready for the Results? [PDF]

GE Port J Gastroenterol, 2021
Pereira F, Teixeira MR, Dinis Ribeiro M, Brandão C.   +3 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

Translation and cross-cultural adaptation of the 2017 Oncology Nurse Navigator Core Competencies in Brazil. [PDF]

Einstein (Sao Paulo)
Cunha MLDR, Barros AS, Santos ERD.
europepmc   +1 more source

The APOL1 gene and kidney transplantation: a review article. [PDF]

J Bras Nefrol
Tavares MG, Requião-Moura L, Queiroga L, Silva Junior HT, Pestana JOM.   +4 more
europepmc   +1 more source

Brazilian Guideline on Dyslipidemias and Prevention of Atherosclerosis - 2025. [PDF]

Arq Bras Cardiol
Rached FH, Miname MH, Rocha VZ, Zimerman A, Cesena FHY, Sposito AC, Santos RDD, Behr PEB, Bianco HT, Alves RJ, Faludi AA, Coutinho EDR, Fonseca FAH, Carvalho LSF, Bertolami A, Rocha AMD, Marte AP, Chagas ACP, Caramelli B, Polanczyk CA, Ferreira CEDS, Serrano Junior CV, Araujo DB, Moriguchi EH, Pinto FJ, Moreira HG, Back IC, Faria Neto JR, Maia KAP, Bertolami MC, Assad MHV, Izar MCO, Barreto MA, Barreto NSF, Silva PGMBE, Pimentel Filho P, Maranhão RC, Kaiser SE, Machado VA, Saraiva JFK.   +39 more
europepmc   +1 more source