Found: 11
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'Minimal' holoprosencephaly in a 14q deletion syndrome patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3216, doi. 10.1002/ajmg.a.38378
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- Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717
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- Article
Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 12, p. 2204, doi. 10.1111/epi.12393
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- Article
Encephalopathy with status epilepticus during slow sleep: “The Penelope syndrome”.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, p. 4, doi. 10.1111/j.1528-1167.2009.02209.x
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- Article
New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1694, doi. 10.1177/0883073812462765
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- Publication type:
- Article
Very Early Onset and Severe Complicated Phenotype Caused by a New Spastic Paraplegia 3A Gene Mutation.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 10, p. 1348, doi. 10.1177/0883073811435245
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- Article
The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review.
- Published in:
- 2011
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- Publication type:
- Case Study
Transient Basal Ganglia and Thalamic Involvement Following Mycoplasma pneumoniae Infection Associated With Antiganglioside Antibodies.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 8, p. 1029, doi. 10.1177/0883073809355823
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- Publication type:
- Article
Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient.
- Published in:
- 2010
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- Publication type:
- Case Study
Isolated Vitamin E Deficiency Mimicking Distal Hereditary Motor Neuropathy in a 13-Year-Old Boy.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 11, p. 1328, doi. 10.1177/0883073808318058
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- Publication type:
- Article
Acute Ophthalmoparesis Associated With Anti-GM1, Anti-GD1a, and Anti-GD1b Antibodies After Enterovirus Infection in a 6-Year-Old Girl.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 4, p. 432, doi. 10.1177/0883073807301921
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- Publication type:
- Article