Found: 15
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Regional genomic instability predisposes to complex dystrophin gene rearrangements.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 411, doi. 10.1007/s00439-009-0679-9
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- Publication type:
- Article
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 716, doi. 10.1002/acn3.51272
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- Publication type:
- Article
A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 320, doi. 10.1159/000511343
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- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Article
Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype.
- Published in:
- 2023
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- Publication type:
- Case Study
Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects.
- Published in:
- Annals of Pediatric Cardiology, 2020, v. 13, n. 1, p. 38, doi. 10.4103/apc.APC_51_19
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- Publication type:
- Article
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
- Published in:
- Annals of Pediatric Cardiology, 2015, v. 8, n. 2, p. 153, doi. 10.4103/0974-2069.154149
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- Publication type:
- Article
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1124, doi. 10.1002/humu.20581
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
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- Publication type:
- Article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
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- Publication type:
- Article
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124
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- Publication type:
- Article
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2935, doi. 10.1002/ajmg.a.35613
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- Article
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 6, p. 834, doi. 10.1002/ana.21980
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- Publication type:
- Article
Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings.
- Published in:
- Pediatrics International, 2010, v. 52, n. 3, p. 492, doi. 10.1111/j.1442-200X.2010.03041.x
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- Publication type:
- Article