Results 61 to 70 of about 1,153 (130)

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

open access: yesAten Primaria, 2022
Ejarque Doménech I   +7 more
europepmc   +1 more source

PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1. [PDF]

open access: yesRev Paul Pediatr, 2020
Miranda PSF   +5 more
europepmc   +1 more source

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype. [PDF]

open access: yesRev Neurol, 2023
Barreto-Mota R   +6 more
europepmc   +1 more source

Alteración del paladar en la Distrofia Miotónica tipo 1. A propósito de un caso [PDF]

open access: yes
Introduction: myotonic dystrophy type 1 is a chronic, hereditary disease. It typically manifests during the third or fourth decade of life; however, phenotypic variability is broad, and it may be associated with palatal alterations unrelated to ...
Duarte-Rodríguez, Blanca   +3 more
core  

Brazilian Guidelines for Cardiac Implantable Electronic Devices - 2023. [PDF]

open access: yesArq Bras Cardiol, 2023
Teixeira RA   +51 more
europepmc   +1 more source

Mejora de la calidad de vida en pacientes con enfermedad de Steinert [PDF]

open access: yes, 2013
La enfermedad de Steinert, también conocida como distrofia miotónica de tipo 1 (DM1), es una enfermedad hereditaria autosómica dominante, multisistémica, crónica, de progresión lenta y de heredabilidad altamente variable que se puede manifestar en ...
Naval Morelli, Javier   +1 more
core  

[Creatine phosphokinase enzyme elevation in two third-level hospitals of Córdoba]. [PDF]

open access: yesRev Fac Cien Med Univ Nac Cordoba, 2022
Saad EJ   +10 more
europepmc   +1 more source

Síndrome de Steinert no âmbito da medicina dentária [PDF]

open access: yes, 2015
Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Medicina DentáriaA síndrome de Steinert, ou distrofia miotónica tipo 1, é uma patologia resultante de mutações ...
Baptista, Helena Marisa Gonçalves
core  

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