檢索結果 - Arnaud Molin

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  1. 1
    Clinical evidence for independent regulation of vitamin D by intestinal CYP24A1

    Clinical evidence for independent regulation of vitamin D by intestinal CYP24A1 由 Sandrine Lemoine, Arnaud Molin, Alice Koenig, Justine Bacchetta

    出版 2025
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  2. 2
    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development 由 Nicolas Richard, Arnaud Molin, Nadia Coudray, Pauline Rault-Guillaume, Harald Jüppner, Marie‐Laure Kottler

    出版 2013
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  3. 3
    Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM

    Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM 由 Pauline Romanet, Lucie Coppin, Arnaud Molin, Nicolas Santucci, M. Le Bras, Marie‐Françoise Odou

    出版 2025
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  4. 4
    Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH) <sub>2</sub> D <sub>3</sub> in Affected Patients

    Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH) <sub>2</sub> D <sub>3</sub> in Affected Patients 由 Martin Kaufmann, Nicole Erin Morse, Billy J. Molloy, Donald P. Cooper, Karl P. Schlingmann, Arnaud Molin, Marie-Laure Kottler, John C. Gallagher, Laura Armas, Glenville Jones

    出版 2017
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  5. 5
    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper

    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper 由 Justine Bacchetta, Thomas Édouard, Gilles Laverny, Julie Bernardor, Aurélia Bertholet‐Thomas, Mireille Castanet, C. Garnier, Isabelle Gennero, J. Harambat, Alexandre Lapillonne, Arnaud Molin, C. Naud, Jean‐Pierre Salles, Sophie Laborie, Patrick Tounian, Agnès Linglart

    出版 2022
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  6. 6
    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 由 Arnaud Molin, Arnaud Wiedemann, Nick Demers, Martin Kaufmann, Jérémy Do Cao, Laurent Mainard, B. Dousset, P. Journeau, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Richard, G. Weryha, Arthur Sorlin, Glenville Jones, Marie‐Laure Kottler, François Feillet

    出版 2017
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  7. 7
    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait 由 Arnaud Molin, R. Baudoin, Martin Kaufmann, J.-C. Souberbielle, Amélie Ryckewaert, Marie‐Christine Vantyghem, P. Eckart, Justine Bacchetta, Georges Deschênes, G. Kesler-Roussey, Nadia Coudray, Nicolas Richard, M. Wraich, Q. Bonafiglia, Anatoly Tiulpakov, Glenville Jones, Marie‐Laure Kottler

    出版 2015
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  8. 8
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway 由 Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    出版 2019
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  9. 9
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability 由 María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    出版 2024
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