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1.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Int J Med Sci
; 21(1): 8-18, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38164354
2.
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
BMC Neurol
; 17(1): 25, 2017 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28166746
3.
Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.
Int J Mol Sci
; 18(1)2017 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28075357
4.
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Mol Genet Metab
; 119(1-2): 8-13, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27436784
5.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr
; 169: 174-80.e1, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26685070
6.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.
J Pers Med
; 11(11)2021 Oct 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34834418
7.
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.
J Pers Med
; 11(11)2021 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34834549
8.
Very rare condition of multiple Gaucheroma: A case report and review of the literature.
Mol Genet Metab Rep
; 20: 100473, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31193028
9.
Very rare condition of multiple Gaucheroma: A case report and review of the literature.
Mol Genet Metab Rep
; 20: 100489, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31341788
10.
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
Orphanet J Rare Dis
; 14(1): 73, 2019 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30940196
11.
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
J Chin Med Assoc
; 80(4): 253-261, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28302372
12.
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
J Am Coll Cardiol
; 68(23): 2554-2563, 2016 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-27931613
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