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PP15.3 – 2545: Everolimus for patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Results from an expanded access study

European journal of paediatric neurology, 2015-05, Vol.19, p.S90-S90

2015

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A TECHNO-ECONOMIC ASSESSMENT OF BIOFUELS PRODUCTION BY MICROALGAE

Chemical engineering transactions, 2010-01, Vol.20

2010

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Chromosome 18 aberrations and epilepsy: A review

American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.88-94

2005

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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

Journal of medical genetics, 2000-04, Vol.37 (4), p.287-291

2000

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Pubertal disorders in inv dup(15) syndrome

Gynecological endocrinology, 2001-06, Vol.15 (3), p.165-169

2001

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High Rate of Mosaicism in Tuberous Sclerosis Complex

American journal of human genetics, 1999-06, Vol.64 (6), p.1632-1637

1999

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Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

American journal of medical genetics, 2003-07, Vol.120A (1), p.88-91

2003

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Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1

Child's nervous system, 1993-12, Vol.9 (8), p.448-451

1993

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Electroencephalographic and epileptic patterns in X chromosome anomalies

Journal of clinical neurophysiology, 2004-07, Vol.21 (4), p.249-253

2004

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Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1) : a follow-up study

European journal of pediatrics, 1993-06, Vol.152 (6), p.500-504

1993

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On the semi-classical expression of the quantum-mechanical propagator

Il nuovo cimento. B, 1992-02, Vol.107 (2), p.239-244

1992

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Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

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Biochemical diagnosis of Canavan disease

Child's nervous system, 1992-12, Vol.8 (8), p.468-470

1992

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Biotinidase deficiency: metabolites in CSF

Journal of inherited metabolic disease, 1986-09, Vol.9 (3), p.284-285

1986

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Molecular study in von Recklinghausen neurofibromatosis (NF1)

Child's nervous system, 1991-04, Vol.7 (2), p.98-99

1991

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Pubertal disorders in inv dup(15) syndrome

Gynecological endocrinology, 2001, Vol.15 (3), p.165-169

2001

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Up-date sulla sclerosi tuberosa: Follow-up clinico

Rivista di neuroradiologia, 2003-06, Vol.16 (3), p.551-552

2003

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Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.263-266

1988

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An open system for managing long-term ECG recordings

Computers in Cardiology 2000. Vol.27 (Cat. 00CH37163), 2000, p.653-656

2000

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Risk Behaviors, Self-Efficacy, and AIDS Prevention Among Adolescents

The journal of psychology, 1996-09, Vol.130 (5), p.537-546

1996

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Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Respiratory medicine CME, 2008, Vol.1 (2), p.85-86

2008

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Segregation analysis in 32 families of patients with absence seizures

Pediatric neurology, 1994-09, Vol.11 (2), p.177-178

1994

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Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

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Chromosome 18 aberrations and epilepsy : A review

American journal of medical genetics, 2005, Vol.134A (1), p.88-94

2005

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Chromosome 18 aberrations and epilepsy: A review

American Journal of Medical Genetics Part A, 2005, Vol.134A (1), p.88-94

2005

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PP15.3 – 2545: Everolimus for patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Results from an expanded access study

A TECHNO-ECONOMIC ASSESSMENT OF BIOFUELS PRODUCTION BY MICROALGAE

Chromosome 18 aberrations and epilepsy: A review

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

Pubertal disorders in inv dup(15) syndrome

High Rate of Mosaicism in Tuberous Sclerosis Complex

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1

Electroencephalographic and epileptic patterns in X chromosome anomalies

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1) : a follow-up study

On the semi-classical expression of the quantum-mechanical propagator

Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Biochemical diagnosis of Canavan disease

Biotinidase deficiency: metabolites in CSF

Molecular study in von Recklinghausen neurofibromatosis (NF1)

Pubertal disorders in inv dup(15) syndrome

Up-date sulla sclerosi tuberosa: Follow-up clinico

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

An open system for managing long-term ECG recordings

Risk Behaviors, Self-Efficacy, and AIDS Prevention Among Adolescents

Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Segregation analysis in 32 families of patients with absence seizures

Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Chromosome 18 aberrations and epilepsy : A review

Chromosome 18 aberrations and epilepsy: A review

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