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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome

Pediatric neurology, 2004, Vol.30 (1), p.67-70

2004

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Pitt–Hopkins syndrome in two patients and further definition of the phenotype

Clinical dysmorphology, 2006-04, Vol.15 (2), p.47-54

2006

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Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Clinical dysmorphology, 2004-04, Vol.13 (2), p.85-90

2004

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Pseudoprogression of Cerebral Cavernous Angiomas: The Importance of Proper Magnetic Resonance Imaging Technique

Journal of neuroimaging, 1996-07, Vol.6 (3), p.195-196

1996

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Acute and delayed cerebral infarction after wasp sting anaphylaxis

Clinical neuropharmacology, 1994-08, Vol.17 (4), p.384-388

1994

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Herpes Simplex Myelitis Simulating Neoplasm on Magnetic Resonance Imaging

Journal of neuroimaging, 1995-07, Vol.5 (3), p.190-191

1995

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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1267-1279

2017

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Low-grade gliomas and focal cortical developmental malformations: differentiation with proton MR spectroscopy

Radiology, 2004-03, Vol.230 (3), p.703-708

2004

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Neuroimaging supports the clinical diagnosis of methanol poisoning

Neuroradiology, 2002-11, Vol.44 (11), p.924-928

2002

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Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

The Journal of pediatrics, 1997, Vol.130 (1), p.67-76

1997

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Pregnancy Associated Ischaemic Optic Neuropathy

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2011-08, Vol.35 (4), p.202-206

2011

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Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Pediatric nephrology (Berlin, West), 2006-02, Vol.21 (2), p.182-189

2006

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Congenital varicella-zoster virus infection after maternal subclinical infection: clinical and neuropathological findings

Journal of perinatology, 2001-03, Vol.21 (2), p.141-146

2001

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Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study

Brain & development (Tokyo. 1979), 1995, Vol.17 (1), p.57-61

1995

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Outcome of children after maternal primary Toxoplasma infection during pregnancy with emphasis on avidity of specific IgG

The Pediatric infectious disease journal, 1995-05, Vol.14 (5), p.354-361

1995

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Radiological signs in newborns exposed to primary Toxoplasma infection in utero

Pediatric radiology, 1997-02, Vol.27 (2), p.133-138

1997

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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome

Pitt–Hopkins syndrome in two patients and further definition of the phenotype

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Pseudoprogression of Cerebral Cavernous Angiomas: The Importance of Proper Magnetic Resonance Imaging Technique

Acute and delayed cerebral infarction after wasp sting anaphylaxis

Herpes Simplex Myelitis Simulating Neoplasm on Magnetic Resonance Imaging

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Low-grade gliomas and focal cortical developmental malformations: differentiation with proton MR spectroscopy

Neuroimaging supports the clinical diagnosis of methanol poisoning

Radiation therapy and concurrent topotecan followed by maintenance triple anti-angiogenic therapy with thalidomide, etoposide, and celecoxib for pediatric diffuse intrinsic pontine glioma: Anti-Angiogenic Therapy for Pediatric DIPGs

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

Pregnancy Associated Ischaemic Optic Neuropathy

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Congenital varicella-zoster virus infection after maternal subclinical infection: clinical and neuropathological findings

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study

Outcome of children after maternal primary Toxoplasma infection during pregnancy with emphasis on avidity of specific IgG

Radiological signs in newborns exposed to primary Toxoplasma infection in utero

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