תוצאות חיפוש - Boris Keren

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  1. 1
    PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

    PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience מאת Boris Keren

    יצא לאור 2004
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    Artigo
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  2. 2
    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation... מאת Stéphanie Maupetit‐Mehouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynès, Guiomar Pérez de Nanclares, Boris Keren, Sandra Chantot‐Bastaraud, Anne Barlier, Agnès Linglart, Irène Netchine

    יצא לאור 2013
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    Artigo
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  3. 3
    Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

    Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum מאת Anne Legrand, Laurence Cornez, Wafa Samkari, Jean‐Michaël Mazzella, Annabelle Vénisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Bénistan, Dominique P. Germain, Michael Frank, Xavier Jeunemaı̂tre, Juliette Albuisson

    יצא לאור 2017
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    Artigo
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  4. 4
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... מאת Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    יצא לאור 2014
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    Artigo
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  5. 5
    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood מאת Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg

    יצא לאור 2017
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    Artigo
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  6. 6
    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects מאת Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Xavier H. Jaglin, Catherine Fallet‐Bianco, Rima Nabbout, Laëtitia Castelnau-Ptakhine, Agathe Roubertie, Tania Attié‐Bitach, Isabelle Desguerre, David Geneviève, Christine Barnérias, Boris Keren, Nicolas Lebrun, Nathalie Boddaert, Férechté Encha‐Razavi, Jamel Chelly

    יצא לאור 2010
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    Artigo
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  7. 7
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders מאת Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    יצא לאור 2013
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    Artigo
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  8. 8
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences מאת Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    יצא לאור 2017
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    Artigo
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  9. 9
    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females מאת Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, B Benyahia, Chloé Quēlin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi‐Buisson, Isabelle Gourfinkel‐An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern

    יצא לאור 2009
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    Artigo
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  10. 10
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing מאת Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    יצא לאור 2020
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    Artigo
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  11. 11
    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE מאת Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne

    יצא לאור 2012
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    Artigo
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  12. 12
    Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

    Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission מאת Theofanis Karayannis, Edmund Au, Jyoti C. Patel, Ilya Kruglikov, Sander Markx, Richard Delorme, Delphine Héron, D. Salomon, Joseph Glessner, Sophie Restituito, Aaron Gordon, Laura Rodriguez‐Murillo, Natalie Roy, Joseph A. Gogos, Bernardo Rudy, Margaret E. Rice, Maria Karayiorgou, Hákon Hákonarson, Boris Keren, Guillaume Huguet, Thomas Bourgeron, Charles A. Hoeffer, Richard W. Tsien, Elior Peles, Gord Fishell

    יצא לאור 2014
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    Artigo
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  13. 13
    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy

    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy מאת Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, Lisa G. Riley, Desirée E.C. Smith, Joëlle Rudinger‐Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frédéric Tran Mau‐Them, Richard J. Rodenburg, Ryan J. Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S. Salomons, Fanny Mochel

    יצא לאור 2019
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    Artigo
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  14. 14
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction מאת Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    יצא לאור 2019
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    Artigo
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  15. 15
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients מאת Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    יצא לאור 2017
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    Artigo
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  16. 16
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy מאת Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    יצא לאור 2019
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    Artigo
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  17. 17
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy מאת Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    יצא לאור 2017
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    Artigo
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  18. 18
    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism מאת Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    יצא לאור 2022
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    Pré-impressão
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  19. 19
    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism מאת Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    יצא לאור 2022
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    Artigo
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  20. 20
    Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

    Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies מאת Joseph Saliba, Cécile Saint‐Martin, Antonio Di Stefano, Gaëlle Lenglet, Caroline Marty, Boris Keren, Florence Pasquier, Véronique Della Valle, Lise Secardin, Gwendoline Leroy, Emna Mahfoudhi, Sarah Grosjean, Nathalie Droin, M’Boyba Diop, Philippe Dessen, Sabine Charrier, Alberta Palazzo, Jane Merlevede, Jean-Côme Meniane, Christine Delaunay-Darivon, Pascal Fuseau, Françoise Isnard, Nicole Casadevall, Éric Solary, Najet Debili, Olivier Bernard, Hana Raslová, A Najman, William Vainchenker, Christine Bellanné‐Chantelot, Isabelle Plo

    יצא לאור 2015
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    Artigo
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