Found: 8
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The phenotype associated with a large deletion on MECP2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 921, doi. 10.1038/ejhg.2012.34
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- Article
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 8, p. 671, doi. 10.1002/pd.1193
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- Article
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.
- Published in:
- Cerebellum, 2007, v. 6, n. 2, p. 118, doi. 10.1080/14734220601021700
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- Article
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-12
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- Article
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 315, doi. 10.1007/s10545-010-9169-4
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- Article
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 43, doi. 10.1007/s10545-009-9015-8
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- Article
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.972
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- Article
Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 4, p. 470, doi. 10.1177/0883073812448459
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- Article