Found: 27
Select item for more details and to access through your institution.
Noonan Syndrome in Thai Children.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. 3, p. 364, doi. 10.1017/S1047951121002079
- By:
- Publication type:
- Article
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 373, doi. 10.1515/jpem-2015-0228
- By:
- Publication type:
- Article
Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells.
- Published in:
- Biochemical Genetics, 2012, v. 50, n. 11/12, p. 990, doi. 10.1007/s10528-012-9538-9
- By:
- Publication type:
- Article
Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 778, doi. 10.1002/pd.5909
- By:
- Publication type:
- Article
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
- Published in:
- JAMA Pediatrics, 2021, v. 175, n. 5, p. e205906, doi. 10.1001/jamapediatrics.2020.5906
- By:
- Publication type:
- Article
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 713, doi. 10.3233/JND-210784
- By:
- Publication type:
- Article
Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06091-0
- By:
- Publication type:
- Article
Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 943, doi. 10.1002/jimd.12640
- By:
- Publication type:
- Article
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 253, doi. 10.1002/jimd.12313
- By:
- Publication type:
- Article
Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD).
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 169, doi. 10.1002/jimd.12038
- By:
- Publication type:
- Article
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 263, doi. 10.1007/s10545-013-9645-8
- By:
- Publication type:
- Article
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Missense variant contribution to USP9X-female syndrome.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
- By:
- Publication type:
- Article
Role of elosulfase alfa in mucopolysaccharidosis IVA.
- Published in:
- Application of Clinical Genetics, 2016, v. 9, p. 67, doi. 10.2147/TACG.S69080
- By:
- Publication type:
- Article
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
- Published in:
- Skeletal Radiology, 2014, v. 43, n. 3, p. 359, doi. 10.1007/s00256-013-1797-y
- By:
- Publication type:
- Article
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1167, doi. 10.1002/ajmg.a.61544
- By:
- Publication type:
- Article
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 486, doi. 10.1002/ajmg.a.61034
- By:
- Publication type:
- Article
Cornelia de Lange syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
- By:
- Publication type:
- Article
Cover Image, Volume 176A, Number 5, May 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
- By:
- Publication type:
- Article
Williams–Beuren syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
- By:
- Publication type:
- Article
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1443, doi. 10.1002/ajmg.a.36489
- By:
- Publication type:
- Article
The smallest teeth in the world are caused by mutations in the PCNT gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1398, doi. 10.1002/ajmg.a.33984
- By:
- Publication type:
- Article
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 228, doi. 10.1002/ajmg.a.33768
- By:
- Publication type:
- Article
Basilar artery aneurysm: A new finding in classic infantile pompe disease.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 4, p. 613, doi. 10.1002/mus.23659
- By:
- Publication type:
- Article
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article