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  2. Jaureguiberry, Graciana [Author]; De la Dure-Molla, Muriel [Author]; Parry, David [Author]; Quentric, Mickael [Author]; Himmerkus, Nina [Author]; Koike, Toshiyasu [Author]; Poulter, James [Author]; Klootwijk, Enriko [Author]; Robinette, Steven L. [Author]; Howie, Alexander J. [Author]; Patel, Vaksha [Author]; Figueres, Marie-Lucile [Author]; Stanescu, Horia C. [Author]; Issler, Naomi [Author]; Nicholson, Jeremy K. [Author]; Bockenhauer, Detlef [Author]; Laing, Christopher [Author]; Walsh, Stephen B. [Author]; McCredie, David A. [Author]; Povey, Sue [Author]; Asselin, Audrey [Author]; Picard, Arnaud [Author]; Coulomb, Aurore [Author]; Medlar, Alan J. [Author]; [...]

    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

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    Basel: Karger, 23 February 2013

    Published in: Nephron. Physiology ; 122 (2012), 1-2

  3. Laugel-Haushalter, Virginie; Paschaki, Marie; Thibault-Carpentier, Christelle; Dembelé, Doulaye; Dollé, Pascal; Bloch-Zupan, Agnès

    Molars and incisors: show your microarray IDs

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    Springer Science and Business Media LLC, 2013

    Published in: BMC Research Notes

  5. Bloch-Zupan, Agnès; Rousseaux, Morgan; Laugel, Virginie; Schmittbuhl, Matthieu; Mathis, Rémy; Desforges, Emmanuelle; Koob, Mériam; Zaloszyc, Ariane; Dollfus, Hélène; Laugel, Vincent

    A possible cranio-oro-facial phenotype in Cockayne syndrome

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    Springer Science and Business Media LLC, 2013

    Published in: Orphanet Journal of Rare Diseases

  9. Poirier, Mathilde; Millot, Yannick; Silva Gomes, Elisa; Jaber, Maguy; Herledan, Virginie; Laugel, Guillaume; Micoud, Pierre; Martin, François; Lauron-Pernot, Hélène; Toulhoat, Hervé

    Complementarity of Density Functional Theory and Nuclear Magnetic Resonance Tools To Probe the Nano-Layered Silicates Surface Chemistry and Morphology

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    American Chemical Society (ACS), 2020

    Published in: The Journal of Physical Chemistry C

  11. Cornu, Damien; Lin, Longfei; Daou, Maya Mounir; Jaber, Maguy; Krafft, Jean-Marc; Herledan, Virginie; Laugel, Guillaume; Millot, Yannick; Lauron-Pernot, Hélène

    Influence of acid–base properties of Mg-based catalysts on transesterification: role of magnesium silicate hydrate formation

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    Royal Society of Chemistry (RSC), 2017

    Published in: Catalysis Science & Technology

  13. Boulberdaa, Mounia; Turkeri, Gulen; Urayama, Kyoji; Dormishian, Mojdeh; Szatkowski, Cécilia; Zimmer, Luc; Messaddeq, Nadia; Laugel, Virginie; Dollé, Pascal; Nebigil, Canan G.

    Genetic Inactivation of Prokineticin Receptor-1 Leads to Heart and Kidney Disorders

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    Ovid Technologies (Wolters Kluwer Health), 2011

    Published in: Arteriosclerosis, Thrombosis, and Vascular Biology

  14. Bloch-Zupan, Agnès; Jamet, Xavier; Etard, Christelle; Laugel, Virginie; Muller, Jean; Geoffroy, Véronique; Strauss, Jean-Pierre; Pelletier, Valérie; Marion, Vincent; Poch, Olivier; Strahle, Uwe; Stoetzel, Corinne; Dollfus, Hélène

    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

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    Elsevier BV, 2011

    Published in: The American Journal of Human Genetics

  15. Wallach, Elisabeth; Ehlinger, Virginie; Biotteau, Maelle; Walther-Louvier, Ulrike; Péréon, Yann; Vuillerot, Carole; Fontaine, Stephanie; Sabouraud, Pascal; Espil-Taris, Caroline; Cuisset, Jean-Marie; Laugel, Vincent; Baudou, Eloïse; Arnaud, Catherine; Cances, Claude

    Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)

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    Springer Science and Business Media LLC, 2023

    Published in: BMC Pediatrics

  16. Laugel-Haushalter, Virginie; Bär, Séverine; Schaefer, Elise; Stoetzel, Corinne; Geoffroy, Véronique; Alembik, Yves; Kharouf, Naji; Huckert, Mathilde; Hamm, Pauline; Hemmerlé, Joseph; Manière, Marie-Cécile; Friant, Sylvie; Dollfus, Hélène; Bloch-Zupan, Agnès

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

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    Frontiers Media SA, 2019

    Published in: Frontiers in Genetics

  17. Laugel-Haushalter, Virginie; Morkmued, Supawich; Stoetzel, Corinne; Geoffroy, Véronique; Muller, Jean; Boland, Anne; Deleuze, Jean-François; Chennen, Kirsley; Pitiphat, Waranuch; Dollfus, Hélène; Niederreither, Karen; Bloch-Zupan, Agnès; Pungchanchaikul, Patimaporn

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

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    Frontiers Media SA, 2018

    Published in: Frontiers in Physiology

  18. Laugel-Haushalter, Virginie; Paschaki, Marie; Marangoni, Pauline; Pilgram, Coralie; Langer, Arnaud; Kuntz, Thibaut; Demassue, Julie; Morkmued, Supawich; Choquet, Philippe; Constantinesco, André; Bornert, Fabien; Schmittbuhl, Matthieu; Pannetier, Solange; Viriot, Laurent; Hanauer, André; Dollé, Pascal; Bloch-Zupan, Agnès

    RSK2 Is a Modulator of Craniofacial Development

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    Public Library of Science (PLoS), 2014

    Published in: PLoS ONE

  19. Bloch-Zupan, Agnes; Rey, Tristan; Jimenez-Armijo, Alexandra; Kawczynski, Marzena; Kharouf, Naji; Dure-Molla, Muriel de La; Noirrit, Emmanuelle; Hernandez, Magali; Joseph-Beaudin, Clara; Lopez, Serena; Tardieu, Corinne; Thivichon-Prince, Béatrice; Dostalova, Tatjana; Macek, Milan; Alloussi, Mustapha El; Qebibo, Leila; Morkmued, Supawich; Pungchanchaikul, Patimaporn; Orellana, Blanca Urzúa; Manière, Marie-Cécile; Gérard, Bénédicte; Bugueno, Isaac Maximiliano; Laugel-Haushalter, Virginie

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

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    Frontiers Media SA, 2023

    Published in: Frontiers in Physiology

  20. Hully, Marie; Barnerias, Christine; Chabalier, Delphine; Le Guen, Sophie; Germa, Virginie; Deladriere, Elodie; Vanhulle, Catherine; Cuisset, Jean-Marie; Chabrol, Brigitte; Cances, Claude; Vuillerot, Carole; Espil, Caroline; Mayer, Michele; Nougues, Marie-Christine; Sabouraud, Pascal; Lefranc, Jeremie; Laugel, Vincent; Rivier, Francois; Louvier, Ulrike Walther; Durigneux, Julien; Napuri, Sylvia; Sarret, Catherine; Renouil, Michel; Masurel, Alice; [...]

    Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

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    Frontiers Media SA, 2020

    Published in: Frontiers in Pediatrics