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1.
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Am J Med Genet A
; 176(9): 1917-1928, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30070764
2.
Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al.
Genet Med
; 24(10): 2204-2205, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35920825
3.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Orphanet J Rare Dis
; 11(1): 51, 2016 04 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27129473
4.
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.
J Community Genet
; 6(1): 9-16, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25063732
5.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Artículo
en Inglés
| ARCA | ID: arc-41017
6.
Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc.
J Neuromuscul Dis
; 2(s1): S47, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-27858640
7.
Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings - Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease.
J Neuromuscul Dis
; 2(s1): S24, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-27858620
8.
A descentralização do tratamento medicamentoso (Terapia de Reposição Enzimática) nas Mucopolissacaridoses
Tesis
en Portugués
| ARCA | ID: arc-25249
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