Search Results - Molin, Arnaud
- Showing 1 - 10 results of 10
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1
Paternal GNAS Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development by Richard, Nicolas, Molin, Arnaud, Coudray, Nadia, Rault-Guillaume, Pauline, Jüppner, Harald, Kottler, Marie-Laure
Published 2013Text -
2
Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience by Bernardor, Julie, Flammier, Sacha, Cabet, Sara, Lemoine, Sandrine, Chapurlat, Roland, Molin, Arnaud, Bertholet-Thomas, Aurélia, Bacchetta, Justine
Published 2021Text -
3
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French famil... by Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Godin, Manon, Bracquemart, Claire, Resbeut, Antoine, Rey, Gaëlle, Nadeau, Gwenaël, Richard, Nicolas
Published 2021Text -
4
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia by Rovito, Daniela, Belorusova, Anna Y., Chalhoub, Sandra, Rerra, Anna-Isavella, Guiot, Elvire, Molin, Arnaud, Linglart, Agnès, Rochel, Natacha, Laverny, Gilles, Metzger, Daniel
Published 2020Text -
5
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B by Colson, Cindy, Decamp, Matthieu, Gruchy, Nicolas, Coudray, Nadia, Ballandonne, Céline, Bracquemart, Claire, Molin, Arnaud, Mittre, Hervé, Takatani, Rieko, Jüppner, Harald, Kottler, Marie-Laure, Richard, Nicolas
Published 2019Text -
6
Fluconazole in hypercalciuric patients with increased 1,25(OH)(2)D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial by Bertholet-Thomas, Aurélia, Portefaix, Aurélie, Flammier, Sacha, Dhelens, Carole, Subtil, Fabien, Dubourg, Laurence, Laudy, Valérie, Le Bouar, Myrtille, Boussaha, Inesse, Ndiaye, Marietou, Molin, Arnaud, Lemoine, Sandrine, Bacchetta, Justine
Published 2022Text -
7
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D by Molin, Arnaud, Lemoine, Sandrine, Kaufmann, Martin, Breton, Pierre, Nowoczyn, Marie, Ballandonne, Céline, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Ryckwaert, Amélie, Lavillaureix, Alinoe, Jones, Glenville, Bacchetta, Justine, Kottler, Marie-Laure
Published 2021Text -
8
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome by Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C, Rossi, Sabrina, Delezoïde, Anne L, Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R
Published 2014Text -
9
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders by Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Published 2019Text -
10
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł
Published 2019Text