Search Results - "Barbato, Jorge H"
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1
Intragenic RBFOX1 Deletions in Patients With Neurodevelopmental Disorders: Report of Two Cases
Published in Cancer genetics (01-08-2017)Get full text
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2
Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine
Published in Developmental medicine and child neurology (01-06-2001)“…We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures…”
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3
Epstein-Barr virus acute encephalomyelitis in a 13-year-old boy
Published in European journal of paediatric neurology (01-09-2008)“…Abstract The association of acute myelopathy and encephalopathy is reported in a 13-year-old boy. Signs and symptoms of infectious mononucleosis, presence of…”
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4
52 - Partial Trisomy of 7q31.32-q33, Revealed by Microarray CGH, in Three Patients With Intellectual Disability, Hypotonia and Growth Delay
Published in Cancer genetics (01-08-2017)Get full text
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5
Partial Trisomy of 7q31.32-q33, Revealed by Microarray CGH, in Three Patients With Intellectual Disability, Hypotonia and Growth Delay
Published in Cancer genetics (01-08-2017)Get full text
Journal Article -
6
45 - The Constitutional Microarray Comparative Genomic Hybridization (aCGH) Experience at the Joana de Gusmão Children's Hospital
Published in Cancer genetics (01-06-2016)Get full text
Journal Article -
7
The Constitutional Microarray Comparative Genomic Hybridization (aCGH) Experience at the Joana de Gusmão Children's Hospital
Published in Cancer genetics (01-06-2016)Get full text
Journal Article -
8
Pyridoxine‐dependent seizures responding to extremely low‐dose pyridoxine
Published in Developmental medicine and child neurology (01-06-2001)“…We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures…”
Get full text
Journal Article -
9
55 - Intragenic RBFOX1 Deletions in Patients With Neurodevelopmental Disorders: Report of Two Cases
Published in Cancer genetics (01-08-2017)Get full text
Journal Article