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1.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34420548
2.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30057031
3.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33173220
4.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29726930
5.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31949314
6.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32047287
7.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32588908
8.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27693232
9.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31086307
10.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30873612
11.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100831, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37031408
12.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29565424
13.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28914269
14.
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
BMC Health Serv Res
; 18(1): 652, 2018 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-30134969
15.
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
J Genet Couns
; 27(4): 935-946, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29297108
16.
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
J Pediatr
; 180: 200-205.e8, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27776753
17.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30193138
18.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Mol Genet Metab
; 118(4): 272-81, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27209629
19.
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
Mol Genet Metab
; 119(1-2): 115-23, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27473031
20.
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
J Genet Couns
; 25(5): 1019-31, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26868367