يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Portnoï, Marie-France"', وقت الاستعلام: 0.91s تنقيح النتائج
  1. 1
    دورية أكاديمية
    How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

    المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

    المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Hôpital de la Timone CHU - APHM (TIMONE)

    المصدر: ISSN: 1552-4825.

    مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03851530; https://inserm.hal.science/inserm-03851530Test; https://inserm.hal.science/inserm-03851530/documentTest; https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest; PUBMED: 29130637; WOS: 000417872600019

    الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
    https://inserm.hal.science/inserm-03851530Test
    https://inserm.hal.science/inserm-03851530/documentTest
    https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest

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  2. 2
    دورية أكاديمية
    How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

    المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

    المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Hôpital de la Timone CHU - APHM (TIMONE)

    المصدر: ISSN: 1552-4825.

    مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03851530; https://inserm.hal.science/inserm-03851530Test; https://inserm.hal.science/inserm-03851530/documentTest; https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest; PUBMED: 29130637; WOS: 000417872600019

    الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
    https://inserm.hal.science/inserm-03851530Test
    https://inserm.hal.science/inserm-03851530/documentTest
    https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest

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  3. 3
    دورية أكاديمية
    How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

    المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

    المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Hôpital de la Timone CHU - APHM (TIMONE)

    المصدر: ISSN: 1552-4825.

    مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03851530; https://inserm.hal.science/inserm-03851530Test; https://inserm.hal.science/inserm-03851530/documentTest; https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest; PUBMED: 29130637; WOS: 000417872600019

    الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
    https://inserm.hal.science/inserm-03851530Test
    https://inserm.hal.science/inserm-03851530/documentTest
    https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest

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  4. 4
    دورية أكاديمية
    How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

    المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre

    المساهمون: Service de génétique et embryologie médicales CHU Trousseau, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique CHU Pitié Salpêtrière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Neuropédiatrie CHU Trousseau, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau APHP, Hôpital de la Timone CHU - APHM (TIMONE), Service de Génétique médicale CHU Pitié-Salpêtrière, CHU Pitié-Salpêtrière AP-HP

    المصدر: ISSN: 1552-4825.

    مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Male, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03867699; https://www.hal.inserm.fr/inserm-03867699Test; PUBMED: 29130637

    الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
    https://www.hal.inserm.fr/inserm-03867699Test

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