Found: 11
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Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
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- Genes, 2022, v. 13, n. 8, p. 1293, doi. 10.3390/genes13081293
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- Article
Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.
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- Pediatric Dermatology, 2024, v. 41, n. 2, p. 292, doi. 10.1111/pde.15435
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- Article
Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
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- Clinical Genetics, 2024, v. 105, n. 3, p. 262, doi. 10.1111/cge.14458
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- Article
Biochemical signatures of disease severity in multiple sulfatase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 374, doi. 10.1002/jimd.12688
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- Article
Intravital microscopy: An innovative approach to track real‐time muscle integrity and pathology in Pompe disease.
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- Clinical & Translational Discovery, 2024, v. 4, n. 4, p. 1, doi. 10.1002/ctd2.322
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- Article
MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2231, doi. 10.1002/ajmg.a.62756
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- Article
Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1239, doi. 10.1002/ajmg.a.62608
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- Article
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1870, doi. 10.1002/ajmg.a.62170
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- Article
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851
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- Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
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- Article
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2138, doi. 10.1002/ajmg.a.61288
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- Article