Found: 7
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Sporadic Burkitt lymphoma of the jaw: Case report and review of the literature.
- Published in:
- Quintessence International, 2012, v. 43, n. 4, p. 333
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- Article
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 11, doi. 10.1002/jmd2.12081
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- Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
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- Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
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- Article
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
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- JAMA Pediatrics, 2017, v. 171, n. 9, p. 855, doi. 10.1001/jamapediatrics.2017.1755
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- Article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
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- Article
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177
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- Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
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- Article