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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization

Bone (New York, N.Y.), 2018-02, Vol.107, p.154-160

2018

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Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

Neurology, 2010-01, Vol.74 (2), p.157-164

2010

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

Journal of medical genetics, 2006-06, Vol.43 (6), p.541-544

2006

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Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea

Modern rheumatology, 2013-09, Vol.23 (5), p.959-962

2013

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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Neurology, 2006-04, Vol.66 (7), p.1044-1048

2006

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POS0013 SJÖGREN-LIKE SYNDROME, MULTIPLE AUTOIMMUNE DISEASES, THYMOMA AND GENETIC VARIANTS IN AIRE

Annals of the rheumatic diseases, 2022-06, Vol.81 (Suppl 1), p.220-221

2022

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ARX mutations in X-linked lissencephaly with abnormal genitalia

Neurology, 2003-07, Vol.61 (2), p.232-235

2003

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“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia

Journal of neurology, 2012-11, Vol.259 (11), p.2498-2500

2012

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Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Neurology, 2007-07, Vol.69 (5), p.442-447

2007

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Phenotypic spectrum associated with CASK loss-of-function mutations

Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751

2011

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Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome

Journal of clinical neuroscience, 2011-07, Vol.18 (7), p.964-966

2011

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POS1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT

Annals of the rheumatic diseases, 2021-06, Vol.80 (Suppl 1), p.848-848

2021

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Molecular mechanisms of neuronal migration disorders, quo vadis?

Current molecular medicine, 2001-12, Vol.1 (6), p.677-688

2001

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P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease

Neuromuscular disorders : NMD, 2011, Vol.21, p.S15-S16

2011

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Erfassung von erblichem Dickdarm- und Gebärmutterkrebs

Onkologie (Heidelberg, Germany), 2020-09, Vol.26 (9), p.846-855

2020

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1422-1434

2021

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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Neurology, 2006-10, Vol.67 (8), p.1528-1528

2006

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Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Neurology, 2003-01, Vol.60 (2), p.329-332

2003

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Relation between Laterality and Immune Response after Acute Cerebral Ischemia

Neuroimmunomodulation, 2006-01, Vol.13 (1), p.8-12

2006

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Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene

Neuropediatrics, 2004-06, Vol.35 (3), p.157-160

2004

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Functional imaging in PNH caused by a new FilaminA mutation

Neurology, 2004-01, Vol.62 (1), p.151-152

2004

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

POS0013 SJÖGREN-LIKE SYNDROME, MULTIPLE AUTOIMMUNE DISEASES, THYMOMA AND GENETIC VARIANTS IN AIRE

ARX mutations in X-linked lissencephaly with abnormal genitalia

“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Phenotypic spectrum associated with CASK loss-of-function mutations

Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome

POS1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT

Molecular mechanisms of neuronal migration disorders, quo vadis?

P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease

Erfassung von erblichem Dickdarm- und Gebärmutterkrebs

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Relation between Laterality and Immune Response after Acute Cerebral Ischemia

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene

Functional imaging in PNH caused by a new FilaminA mutation

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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