Found: 9
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Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 9, p. 506, doi. 10.1177/0883073819842970
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- Article
Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.
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- Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5
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- Article
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 671, doi. 10.1111/cge.14502
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- Article
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2991, doi. 10.1002/ajmg.a.34316
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- Article
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
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- Human Mutation, 2022, v. 43, n. 12, p. 2265, doi. 10.1002/humu.24479
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- Article
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1990, doi. 10.1002/ajmg.a.62730
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- Article
Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1395, doi. 10.1002/ajmg.a.35361
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- Article
Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation.
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- Journal of Child Neurology, 2010, v. 25, n. 7, p. 892, doi. 10.1177/0883073809351316
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- Article
Muscle Glycogen Depletion and Increased Oxidative Phosphorylation Following Status Epilepticus.
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- Journal of Child Neurology, 2003, v. 18, n. 12, p. 876, doi. 10.1177/088307380301801208
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- Article