检索结果 - Molin, Arnaud

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

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Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience 由 Bernardor, Julie, Flammier, Sacha, Cabet, Sara, Lemoine, Sandrine, Chapurlat, Roland, Molin, Arnaud, Bertholet-Thomas, Aurélia, Bacchetta, Justine

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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... 由 Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Godin, Manon, Bracquemart, Claire, Resbeut, Antoine, Rey, Gaëlle, Nadeau, Gwenaël, Richard, Nicolas

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Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia 由 Rovito, Daniela, Belorusova, Anna Y., Chalhoub, Sandra, Rerra, Anna-Isavella, Guiot, Elvire, Molin, Arnaud, Linglart, Agnès, Rochel, Natacha, Laverny, Gilles, Metzger, Daniel

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High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B 由 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

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Fluconazole in hypercalciuric patients with increased 1,25(OH)(2)D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial 由 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

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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D 由 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

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Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome 由 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

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders 由 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

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway 由 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

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