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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

Journal of medical genetics, 2008-10, Vol.45 (10), p.647-653

2008

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Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique

Revue neurologique, 2008-12, Vol.164 (12), p.995-1009

2008

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Neurology, 2005-11, Vol.65 (9), p.1364

2005

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Journal of medical genetics, 2007-11, Vol.44 (11), p.739-744

2007

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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Missions d'évangélisation et circulation des savoirs : XVIe-XVIIIe siècle

2011

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Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing

Revue neurologique, 2008-12, Vol.164 (12), p.995-1009

2008

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Infecciones asociadas a la Asistencia Sanitaria en un Hospital especializado en el paciente nefro-urológico

Revista habanera de ciencias médicas, 2017, Vol.16 (3), p.479-488

2017

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Retrovirus-Mediated Enzymatic Correction of Tay-Sachs Defect in Transduced and Non-Transduced Cells

Human molecular genetics, 1998-05, Vol.7 (5), p.831-838

1998

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Neuronal Targeting of Cardiotrophin-1 by Coupling with Tetanus Toxin C Fragment

Molecular and cellular neuroscience, 2001-05, Vol.17 (5), p.842-854

2001

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Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: Therapeutic effects and mechanisms of action

Journal of the neurological sciences, 1998-10, Vol.160, p.S97-S105

1998

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MTV's "Staying Alive" Global Campaign Promoted Interpersonal Communication about HIV and Positive Beliefs about HIV Prevention

AIDS education and prevention, 2007-02, Vol.19 (1), p.51-67

2007

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Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice

Human molecular genetics, 2001-09, Vol.10 (18), p.1925-1933

2001

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Personal involvement of young people in HIV prevention campaign messages : the role of message format, culture and gender

Health education & behavior, 2006, Vol.20 (10), p.1-17

2006

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Exposure to MTV's Global HIV Prevention Campaign in Kathmandu, Nepal; Sao Paulo, Brazil; and Dakar, Senegal

AIDS education and prevention, 2007-02, Vol.19 (1), p.36-50

2007

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First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy

American journal of human genetics, 1984-11, Vol.36 (6), p.1379-1389

1984

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In vivo electrotransfer of the cardiotrophin-1 gene into skeletal muscle slows down progression of motor neuron degeneration in pmn mice

Human molecular genetics, 2002-07, Vol.11 (14), p.1615-1625

2002

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A variant of mucolipidosis. II: Clinical, biochemical and pathological investigations

European journal of pediatrics, 1988-04, Vol.147 (3), p.321-327

1988

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Adenoviral cardiotrophin-1 gene transfer protects pmn mice from progressive motor neuronopathy

The Journal of clinical investigation, 1999-10, Vol.104 (8), p.1077-1085

1999

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Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Brain research. Molecular brain research., 2004-03, Vol.122 (1), p.35-46

2004

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First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’

Journal of inherited metabolic disease, 1988-06, Vol.11 (2), p.123-130

1988

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Prenatal diagnosis of atypical tay-sachs disease by chorionic villi sampling

Prenatal diagnosis, 1984-09, Vol.4 (5), p.365-370

1984

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Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β-glucuronidase deficiency)

Prenatal diagnosis, 1982-10, Vol.2 (4), p.251-256

1982

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In-Service Monitoring and Servicing After Leak Detection for the Liquid-Metal Fast Breeder Reactor Steam Generators of Phénix and Super Phénix

Nuclear technology, 1982-08, Vol.58 (2), p.171-183

1982

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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Missions d'évangélisation et circulation des savoirs : XVIe-XVIIIe siècle

Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing

Infecciones asociadas a la Asistencia Sanitaria en un Hospital especializado en el paciente nefro-urológico

Retrovirus-Mediated Enzymatic Correction of Tay-Sachs Defect in Transduced and Non-Transduced Cells

Neuronal Targeting of Cardiotrophin-1 by Coupling with Tetanus Toxin C Fragment

Missions d'évangélisation et circulation des savoirs

Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: Therapeutic effects and mechanisms of action

MTV's "Staying Alive" Global Campaign Promoted Interpersonal Communication about HIV and Positive Beliefs about HIV Prevention

Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice

Personal involvement of young people in HIV prevention campaign messages : the role of message format, culture and gender

Exposure to MTV's Global HIV Prevention Campaign in Kathmandu, Nepal; Sao Paulo, Brazil; and Dakar, Senegal

First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy

In vivo electrotransfer of the cardiotrophin-1 gene into skeletal muscle slows down progression of motor neuron degeneration in pmn mice

A variant of mucolipidosis. II: Clinical, biochemical and pathological investigations

Adenoviral cardiotrophin-1 gene transfer protects pmn mice from progressive motor neuronopathy

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’

Prenatal diagnosis of atypical tay-sachs disease by chorionic villi sampling

Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β-glucuronidase deficiency)

In-Service Monitoring and Servicing After Leak Detection for the Liquid-Metal Fast Breeder Reactor Steam Generators of Phénix and Super Phénix

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