Results 71 to 80 of about 186 (146)

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]

Arq Bras Cardiol
Ribeiro GNP, Lipari LFVP, Senra PM, Pires LVL, Mizuta MH, Olivetti NQS, Aiello VD, Krieger JE.   +7 more
europepmc   +1 more source

[Sirenomelia: a case report]. [PDF]

Rev Med Inst Mex Seguro Soc
Rodríguez-Partida CE, Gutiérrez-Gómez II.   +1 more
europepmc   +1 more source

Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023. [PDF]

Arq Bras Cardiol, 2023
Izar MCO, Santos Filho RDD, Assad MHV, Chagas ACP, Toledo Júnior AO, Nogueira ACC, Souto ACCF, Lottenberg AMP, Chacra APM, Ferreira CEDS, Lourenço CM, Valerio CM, Cintra DE, Fonseca FAH, Campana GA, Bianco HT, Lima JG, Castelo MHCG, Scartezini M, Moretti MA, Barreto NSF, Maia RE, Montenegro Junior RM, Alves RJ, Figueiredo RMM, Fock RA, Martinez TLDR.   +26 more
europepmc   +1 more source

Craniofacial abnormalities among patients with Edwards Syndrome. [PDF]

Rev Paul Pediatr, 2013
Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Graziadio C, Paskulin GA.   +5 more
europepmc   +1 more source

[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome]. [PDF]

Rev Paul Pediatr, 2016
de Marqui AB, da Silva-Grecco RL, Balarin MA.   +2 more
europepmc   +1 more source

Síndrome del nevo sebáceo lineal a propósito de dos casos

Revista Cubana de Medicina Militar
Introducción: El síndrome de nevo sebáceo lineal es una enfermedad neurocutánea poco frecuente, que resulta de un mosaicismo genético con un gen dominante.
Aisel Santos Santos, Leidy García Morales, Cristin María del Mar Arias Cortes, Dilenny Rocio Peguero Velasquez, Juan Carlos Padilla Reyes, Karenia Joglar Hernandez   +5 more
doaj  

[Partial trisomy 9p syndrome: Expanding the phenotype]. [PDF]

Rev Med Inst Mex Seguro Soc
Pérez-Castillo JA, Reyes-Rosales M, Cardoso-Enciso HR, Rodríguez-Cuevas JL.   +3 more
europepmc   +1 more source

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. [PDF]

Sao Paulo Med J, 2014
Rosa RF, D'Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, Paskulin GA, Zen PR.   +7 more
europepmc   +1 more source

Personalised Medicine: implication and perspectives in the field of occupational health. [PDF]

Med Lav, 2020
Bollati V, Ferrari L, Leso V, Iavicoli I.   +3 more
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source