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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island

Clinical genetics, 2014-06, Vol.85 (6), p.543-547

2014

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Chitotriosidase plasma activity in nephropathic cystinosis

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.157-159

2009

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Low serum insulin values in children with multiple lesions of granuloma annulare: a prospective study

Journal of the European Academy of Dermatology and Venereology, 2005-01, Vol.19 (1), p.30-34

2005

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Evolution of Fabry disease in male patients: the Greek experience

Clinical nephrology, 2010-01, Vol.73 (1), p.58-63

2010

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P229 Stereotactic radiosurgery in congenital cavernous malformations

European journal of paediatric neurology, 2009, Vol.13, p.S92-S92

2009

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P060 High resolution agilent 244K oligoarray CGH analysis in a patient with Costello syndrome

European journal of paediatric neurology, 2009, Vol.13, p.S39-S40

2009

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Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

European journal of haematology, 2006-08, Vol.77 (2), p.169-174

2006

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SP07 Neonatal arterial ischaemic stroke and prothrombotic factors: a case report

European journal of paediatric neurology, 2007, Vol.11, p.66-66

2007

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Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Annals of neurology, 2004-06, Vol.55 (6), p.884-887

2004

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ETP012 Refractory infantile spasms: successful management with high-dose topiramate

European journal of paediatric neurology, 2007, Vol.11, p.84-85

2007

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Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18

Journal of medical genetics, 1999-02, Vol.36 (2), p.156-158

1999

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Family Pattern of Idiopathic Hypercalciuria and its Subtypes

The Journal of urology, 1996, Vol.155 (3), p.1042-1044

1996

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Cutaneous leishmaniasis: response to cryotherapy treatment

European journal of pediatrics, 1999-06, Vol.158 (6), p.530-530

1999

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Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait

Developmental medicine and child neurology, 2003-12, Vol.45 (12), p.833-836

2003

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FIBROMUSCULAR DYSPLASIA OF THE INTERNAL CAROTID ARTERY. A CASE REPORT

Neuropediatrics, 2006, Vol.37 (S 1)

2006

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Case report: Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

European journal of haematology, 2006-08, Vol.77 (2), p.169-174

2006

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A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism

Bone Abstracts, 2017-07

2017

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113 Congenital bilateral cataract as the predominant presenting sign of myotonic dystrophy in an infant

European journal of paediatric neurology, 1999, Vol.3 (6), p.A122-A122

1999

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In Reply: Re

The Journal of urology, 1996-12, p.2012

1996

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114 Ataxia-telangiectasia diagnosed in an 8-year-old girl: immunological andenetic findings

European journal of paediatric neurology, 1999, Vol.3 (6), p.A70-A70

1999

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Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

Hemoglobin, 2001, Vol.25 (1), p.45-56

2001

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Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface

Hemoglobin, 2001-02, Vol.25 (1), p.45-56

2001

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Neuroblastoma metastatic to brain

Medical and pediatric oncology, 1996-03, Vol.26 (3), p.208-214

1996

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Activity of 5-Formyl Tetrahydrofolate Cyclodehydrase and 5,10-Methenyl Tetrahydrofolate Cyclohydrolase in Primary Brain Tumors in Children

Pediatric hematology and oncology, 1996, Vol.13 (6), p.511-519

1996

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Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

European Journal of Haematology, 2006, Vol.77 (2), p.169-174

2006

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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island

Chitotriosidase plasma activity in nephropathic cystinosis

Low serum insulin values in children with multiple lesions of granuloma annulare: a prospective study

Evolution of Fabry disease in male patients: the Greek experience

P229 Stereotactic radiosurgery in congenital cavernous malformations

P060 High resolution agilent 244K oligoarray CGH analysis in a patient with Costello syndrome

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

SP07 Neonatal arterial ischaemic stroke and prothrombotic factors: a case report

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

ETP012 Refractory infantile spasms: successful management with high-dose topiramate

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18

Family Pattern of Idiopathic Hypercalciuria and its Subtypes

Cutaneous leishmaniasis: response to cryotherapy treatment

Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait

FIBROMUSCULAR DYSPLASIA OF THE INTERNAL CAROTID ARTERY. A CASE REPORT

Case report: Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism

113 Congenital bilateral cataract as the predominant presenting sign of myotonic dystrophy in an infant

In Reply: Re

114 Ataxia-telangiectasia diagnosed in an 8-year-old girl: immunological andenetic findings

Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface

Neuroblastoma metastatic to brain

Activity of 5-Formyl Tetrahydrofolate Cyclodehydrase and 5,10-Methenyl Tetrahydrofolate Cyclohydrolase in Primary Brain Tumors in Children

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

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