Found: 13
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Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 29, doi. 10.3390/ijns10020029
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- Article
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
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- Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
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- Article
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
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- Genes, 2021, v. 12, n. 9, p. 1352, doi. 10.3390/genes12091352
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- Article
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
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- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211012817
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- Article
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
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- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211012817
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- Article
Outcomes of patients with cobalamin C deficiency: A single center experience.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 102, doi. 10.1002/jmd2.12179
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- Article
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
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- Clinical Genetics, 2020, v. 98, n. 6, p. 613, doi. 10.1111/cge.13844
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- Article
ALU transposition induces familial hypertrophic cardiomyopathy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.951
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- Article
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
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- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1369, doi. 10.1007/s11011-018-0218-2
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- Article
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2226, doi. 10.1002/ajmg.a.38281
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- Article
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
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- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 707, doi. 10.1111/epi.12954
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- Article
Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?
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- Journal of Genetic Counseling, 2007, v. 16, n. 2, p. 201, doi. 10.1007/s10897-006-9060-5
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- Article
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene ( PAH).
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- Human Mutation, 1998, v. 12, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D
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- Article