অনুসন্ধান ফলাফলগুলি - Agnès Guichet

  • প্রদর্শন 1 - 14 ফলাফল এর 14
ফলাফল পরিমার্জন করুন
  1. 1
    Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome

    Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome অনুযায়ী R. Coutant, Delphine Mallet, Najiba Lahlou, Natacha Bouhours‐Nouet, Agnès Guichet, L Coupris, Anne Croué, Yves Morel

    প্রকাশিত 2007
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  2. 2
    Myotilin gene duplication causing late‐onset myotilinopathy

    Myotilin gene duplication causing late‐onset myotilinopathy অনুযায়ী Marco Spinazzi, Marco Savarese, Franck Letournel, Lydia Sagath, Florence Manero, Agnès Guichet, Alexander Hoischen, Corinne Métay, Julien Gouju, Bjarne Udd

    প্রকাশিত 2025
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  3. 3
    New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)

    New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011) অনুযায়ী Véronique Tardy-Guidollet, Rita Menassa, Jean‐Marc Costa, M David, Claire Bouvattier-Morel, Clarisse Baumann, Muriel Houang, F. Lorenzini, Nicole Philip, Sylvie Odent, Agnès Guichet, Yves Morel

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  4. 4
    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis অনুযায়ী Aurélien Olichon, Thomas Landes, Laetitia Pelloquin, Laurent J. Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Pascale Belenguer

    প্রকাশিত 2006
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  5. 5
    OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

    OPA1 R445H mutation in optic atrophy associated with sensorineural deafness অনুযায়ী Patrizia Amati‐Bonneau, Agnès Guichet, Aurélien Olichon, Arnaud Chevrollier, Frédérique Viala, Stéphanie Miot, Carmen Ayuso, Sylvie Odent, Catherine Arrouet, Christophe Verny, M. Calmels, Gilles Simard, Pascale Belenguer, Jing Wang, Jean‐Luc Puel, Christian Hamel, Yves Malthièry, Dominique Bonneau, Guy Lenaers, Pascal Reynier

    প্রকাশিত 2005
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  6. 6
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... অনুযায়ী Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    প্রকাশিত 2009
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  7. 7
    Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

    Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome অনুযায়ী Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie‐Claire Gubler, Zelal Ekinci, Michel Tsimaratos, B. Chabrol, Nathalie Boddaert, Alain Verloès, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoît Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  8. 8
    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features অনুযায়ী Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne, Caroline Racine, Thierry Rousseau, Sophie Nambot, Ange‐Line Bruel, Sébastien Moutton, Chloé Quēlin, Cindy Colson, Anne‐Claire Bréhin, Anne-Marie Guerrot, Caroline Rooryck, Audrey Putoux, Patricia Blanchet, Sylvie Odent, Élise Schaefer, Odile Boute, Alice Goldenberg, Agnès Guichet, Carine Abel, Godeliève Morel, Mélanie Fradin, Bertrand Isidor, Marie Vincent, Christine Francannet, Gabriella Vera, Florence Petit, Mathilde Nizon, Constance Wells, Médéric Jeanne, Caroline Deiller, Alban Ziegler, Manon Godin, Pascale Saugier‐Veber, Kévin Cassinari, Pierre Blanc, E. Simon, Christine Binquet, Yannis Duffourd, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran Mau‐Them, Nicolas Bourgon

    প্রকাশিত 2025
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  9. 9
    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients অনুযায়ী Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin–Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux‐Coëslier, Sylvie Manouvrier, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attié‐Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Élise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laëtitia Lambert, Bruno Leheup, Jéléna Martinovic, Sandra Mercier, Cyril Mignot, Marie‐Laure Moutard, M. Laguía Pérez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloès, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean Laplanche, Corinne Collet

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  10. 10
    Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

    Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals অনুযায়ী Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Jean‐Christophe Andrau, Stéphanie Arpin, Elise Brischoux‐Boucher, Odile Boute, Lydie Bürglen, Charlotte Caille, Yline Capri, Patrick Collignon, Solène Conrad, Valérie Cormier‐Daire, Geoffroy Delplancq, Klaus Dieterich, Hélène Dollfus, Mélanie Fradin, Laurence Faivre, Helder Fernandes, Christine Francannet, Vincent Gâtinois, Marion Gérard, Alice Goldenberg, Jamal Ghoumid, Sarah Grotto, Anne‐Marie Guerrot, Agnès Guichet, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Philippe Khau Van Kien, Marine Legendre, Kim‐Hanh Le Quan Sang, Bruno Leheup, Stanislas Lyonnet, Virginie Magry, Sylvie Manouvrier, Dominique Martin, Godeliève Morel, Arnold Münnich, Sophie Naudion, Sylvie Odent, Laurence Perrin, Florence Petit, Nicole Philip, Marlène Rio, Julie Robbe, Massimiliano Rossi, Elisabeth Sarrazin, Annick Toutain, Julien Van‐Gils, Gabriella Vera, Alain Verloès, Sacha Weber, Sandra Whalen, Damien Sanlaville, Didier Lacombe, Nathalie Aladjidi, David Geneviève

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  11. 11
    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool অনুযায়ী Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Hana Safraou, Ange‐Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent‐Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godeliève Morel, Mélanie Fradin, Alinoë Lavillaureix, Chloé Quēlin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne‐Marie Guerrot, Anne‐Claire Bréhin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre‐Yves Maillard, Frédérique Payet, Marie‐Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Émilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin‐Robinet

    প্রকাশিত 2023
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  12. 12
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus অনুযায়ী Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    প্রকাশিত 2011
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  13. 13
    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study অনুযায়ী Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  14. 14
    Effects of eight neuropsychiatric copy number variants on human brain structure

    Effects of eight neuropsychiatric copy number variants on human brain structure অনুযায়ী Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong

    প্রকাশিত 2021
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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