PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

Milh, M.  et al. 2016

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev. Neurol. (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

J Genet - issue: 1 - volume: 95 - pages: 203-208.

Milh, M.  et al. 2016

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev Neurol (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Lacoste, C.  et al. 2016

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: - volume: 139 - pages: e20.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: Pt 3 - volume: 139 - pages: e20.

Lacoste, C.  et al. 2016

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Milh, M.  et al. 2016

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev. Neurol. (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Lacoste, C.  et al. 2016

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

WOS:000372660600027
J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: Pt 3 - volume: 139 - pages: e20.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

WOS:000371694600006
Brain - issue: - volume: 139 - pages: e20.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: Pt 3 - volume: 139 - pages: e20.