Found: 22
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Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Letter
<italic>UBE2A</italic> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 722, doi. 10.1002/ajmg.a.38589
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- Publication type:
- Article
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212
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- Publication type:
- Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 351, doi. 10.1007/s12031-016-0739-2
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- Publication type:
- Article
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
- Published in:
- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-019-0199-9
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- Publication type:
- Article
Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052264
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- Publication type:
- Article
Arg<sup>1809</sup> substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1460, doi. 10.1038/ejhg.2015.93
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- Publication type:
- Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
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- Publication type:
- Article
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237803
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- Publication type:
- Article
Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 11, p. 1584, doi. 10.1373/clinchem.2011.168898
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- Publication type:
- Article
From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 10, p. 1557, doi. 10.1002/ccr3.1065
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- Publication type:
- Article
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
- Published in:
- Journal of Neurochemistry, 2015, v. 135, n. 6, p. 1123, doi. 10.1111/jnc.13396
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- Publication type:
- Article
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00549
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- Publication type:
- Article
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-018-0477-x
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- Publication type:
- Article
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
- Published in:
- Genes, 2019, v. 10, n. 8, p. 580, doi. 10.3390/genes10080580
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- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Publication type:
- Article
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200446
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- Publication type:
- Article
Seismic reliability of traditional and innovative concentrically braced frames.
- Published in:
- Earthquake Engineering & Structural Dynamics, 2011, v. 40, n. 13, p. 1455, doi. 10.1002/eqe.1098
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- Publication type:
- Article
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.
- Published in:
- Neuropsychiatric Disease & Treatment, 2014, v. 10, p. 135, doi. 10.2147/NDT.S49784
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- Publication type:
- Article
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-44
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- Publication type:
- Article