Found: 8
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 10, p. 841, doi. 10.1177/08830738211006507
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- Publication type:
- Article
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 6, p. 1154, doi. 10.1002/ccr3.2186
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- Publication type:
- Article
A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q 11.2 Deletion Syndrome.
- Published in:
- 2010
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- Publication type:
- Case Study
Phenotype of FOXP2 haploinsufficiency in a mother and son.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 174, doi. 10.1002/ajmg.a.34354
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- Publication type:
- Article
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1485, doi. 10.1002/humu.23299
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- Publication type:
- Article
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1015, doi. 10.1002/ajmg.a.61104
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- Publication type:
- Article
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2776, doi. 10.1002/ajmg.a.38379
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- Publication type:
- Article