Found: 13
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Benign Acute Childhood Myositis.
- Published in:
- Medical Principles & Practice, 2004, v. 13, n. 4, p. 227, doi. 10.1159/000078323
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- Publication type:
- Article
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 485, doi. 10.1159/000531439
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- Publication type:
- Article
Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 11, p. 1428, doi. 10.1177/0883073814566627
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- Publication type:
- Article
SLC35A2-CDG: novel variants with two ends of the spectrum.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1185, doi. 10.1515/jpem-2021-0292
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 1, p. 92, doi. 10.24953/turkjped.2019.01.014
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- Publication type:
- Article
Methylphenidate-Induced Acute Orofacial and Extremity Dyskinesia.
- Published in:
- 2013
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- Publication type:
- Case Study
The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 3, p. 379, doi. 10.1177/0883073812441065
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- Publication type:
- Article
Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 4, p. 333, doi. 10.1177/08830738060210041601
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- Publication type:
- Article
Effect of Antiepileptic Drugs on Plasma Lipids, Lipoprotein (a), and Liver Enzymes.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 1, p. 70, doi. 10.1177/08830738060210011301
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- Publication type:
- Article
Parental-reported drug allergy in 6- to 9-yr-old urban schoolchildren.
- Published in:
- Pediatric Allergy & Immunology, 2008, v. 19, n. 1, p. 82, doi. 10.1111/j.1399-3038.2007.00592.x
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- Publication type:
- Article
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19919-y
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- Publication type:
- Article