תוצאות חיפוש - Kanetee Busiah

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  1. 1
    Neonatal Diabetes Mellitus

    Neonatal Diabetes Mellitus מאת Jacques Beltrand, Kanetee Busiah, Laurence Vaivre‐Douret, Anne Laure Fauret, Marianne Berdugo, Hélène Cavé, Michel Polak

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Revisão
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  2. 2
    Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients

    Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients מאת Martine Vaxillaire, Céline Populaire, Kanetee Busiah, Hélène Cavé, Anna L. Gloyn, Andrew T. Hattersley, Paul Czernichow, Philippe Froguel, Michel Polak

    יצא לאור 2004
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    Activating Mutations in the<i>ABCC8</i>Gene in Neonatal Diabetes Mellitus

    Activating Mutations in the<i>ABCC8</i>Gene in Neonatal Diabetes Mellitus מאת Andrey P. Babenko, Michel Polak, Hélène Cavé, Kanetee Busiah, Paul Czernichow, Raphaël Scharfmann, Joseph Bryan, Lydia Aguilar‐Bryan, Martine Vaxillaire, Philippe Froguel

    יצא לאור 2006
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    Artigo
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  4. 4
    New <i>ABCC8</i> Mutations in Relapsing Neonatal Diabetes and Clinical Features

    New <i>ABCC8</i> Mutations in Relapsing Neonatal Diabetes and Clinical Features מאת Martine Vaxillaire, Aurélie Dechaume, Kanetee Busiah, Hélène Cavé, Sabrina Bernárdez Pereira, Raphaël Scharfmann, Guiomar Pérez de Nanclares, Luís Castaño, Philippe Froguel, Michel Polak

    יצא לאור 2007
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    Artigo
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  5. 5
    RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

    RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells מאת Vikash Chandra, Olivier Albagli, Benoît Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphaël Scharfmann

    יצא לאור 2014
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    Artigo
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  6. 6
    Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

    Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome מאת Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné‐Chantelot, Louis Létourneau, Raphaël Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

    יצא לאור 2010
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    Artigo
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  7. 7
    Childhood Craniopharyngioma: Hypothalamus-Sparing Surgery Decreases the Risk of Obesity

    Childhood Craniopharyngioma: Hypothalamus-Sparing Surgery Decreases the Risk of Obesity מאת Églantine Elowe-Gruau, Jacques Beltrand, Raja Brauner, Graziella Pinto, Dinane Samara‐Boustani, Caroline Thalassinos, Kanetee Busiah, Kathleen Laborde, Nathalie Boddaert, Michel Zérah, Claire Alapetite, Jacques Grill, Philippe Touraine, Christian Sainte‐Rose, Michel Polak, Stéphanie Puget

    יצא לאור 2013
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    Artigo
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  8. 8
    Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

    Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations מאת Jacques Beltrand, Caroline Elie, Kanetee Busiah, Emmanuel Fournier, Nathalie Boddaert, Nadia Bahi‐Buisson, Miriam Vera, Emmanuel Bui-Quoc, I. Ingster-Moati, Marianne Berdugo, Albane Simon, Claire Gozalo, Zoubir Djerada, Isabelle Flechtner, Jean‐Marc Tréluyer, Raphaël Scharfmann, Hélène Cavé, Laurence Vaivre‐Douret, Michel Polak

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

    Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Me... מאת Amélie Bonnefond, Gwen Lomberk, Navtej Buttar, Kanetee Busiah, Emmanuel Vaillant, Stéphane Lobbens, Loïc Yengo, Aurélie Dechaume, Brigitte Mignot, Albane Simon, Raphaël Scharfmann, Bernadette Neve, Sinan Tanyolaç, Uğur Hodoğlugil, François Pattou, Hélène Cavé, Juan Iovanna, Roland Stein, Michel Polak, Martine Vaxillaire, Philippe Froguel, Raúl Urrutia

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  10. 10
    Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

    Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy מאת Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Élise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole‐Feysot, Patrick Nitschké, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnès Rötig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay

    יצא לאור 2017
    קבל טקסט מלא
    Artigo
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  11. 11
    Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

    Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study מאת Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, S. Faisal Ahmed, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Hedi L. Claahsen‐van der Grinten, Martine Cools, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Ieuan A. Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, L. Tack, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  12. 12
    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development מאת Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Yee-Ming Chan, Hedi L. Claahsen‐van der Grinten, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Kenneth MсElreavey, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Kay‐Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

    יצא לאור 2024
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    Artigo
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