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Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. [electronic resource] by
- Escobar, Laura I
- Simian, Christopher
- Treard, Cyrielle
- Hayek, Donia
- Salvador, Carolina
- Guerra, Norma
- Matos, Mario
- Medeiros, Mara
- Enciso, Sandra
- Camargo, María Dolores
- Vargas-Poussou, Rosa
Producer: 20160601
In:
Molecular genetics & genomic medicine vol. 4
Availability: No items available.
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry. [electronic resource] by
- Gil-Peña, Helena
- Coto, Eliecer
- Santos, Fernando
- Espino, Mar
- Cea Crespo, Jose Mª
- Chantzopoulos, Giannis
- Komianou, Filadelfia
- Gómez, Juan
- Alonso, Belén
- Iglesias, Sara
- Treard, Cyrielle
- Vargas-Poussou, Rosa
Publication details: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
In:
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia vol. 37
Availability: No items available.
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Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay. [electronic resource] by
- Valdez-Flores, Marco A
- Vargas-Poussou, Rosa
- Verkaart, Sjoerd
- Tutakhel, Omar A Z
- Valdez-Ortiz, Angel
- Blanchard, Anne
- Treard, Cyrielle
- Hoenderop, Joost G J
- Bindels, René J M
- Jeleń, Sabina
Producer: 20170707
In:
American journal of physiology. Renal physiology vol. 311
Availability: No items available.
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Signification of distal urinary acidification defects in hypocitraturic patients. [electronic resource] by
- Forni Ogna, Valentina
- Blanchard, Anne
- Vargas-Poussou, Rosa
- Ogna, Adam
- Baron, Stéphanie
- Bertocchio, Jean-Philippe
- Prot-Bertoye, Caroline
- Nevoux, Jérôme
- Dubourg, Julie
- Maruani, Gérard
- Mendes, Margarida
- Garcia-Castaño, Alejandro
- Treard, Cyrielle
- Lepottier, Nelly
- Houillier, Pascal
- Courbebaisse, Marie
Producer: 20170919
In:
PloS one vol. 12
Availability: No items available.
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Prevalence of Novel [electronic resource] by
- Legrand, Anne
- Treard, Cyrielle
- Roncelin, Isabelle
- Dreux, Sophie
- Bertholet-Thomas, Aurélia
- Broux, Françoise
- Bruno, Daniele
- Decramer, Stéphane
- Deschenes, Georges
- Djeddi, Djamal
- Guigonis, Vincent
- Jay, Nadine
- Khalifeh, Tackwa
- Llanas, Brigitte
- Morin, Denis
- Morin, Gilles
- Nobili, François
- Pietrement, Christine
- Ryckewaert, Amélie
- Salomon, Rémi
- Vrillon, Isabelle
- Blanchard, Anne
- Vargas-Poussou, Rosa
Producer: 20190916
In:
Clinical journal of the American Society of Nephrology : CJASN vol. 13
Availability: No items available.
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8.
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Observations of a large Dent disease cohort. [electronic resource] by
- Blanchard, Anne
- Curis, Emmanuel
- Guyon-Roger, Tiphaine
- Kahila, Diana
- Treard, Cyrielle
- Baudouin, Véronique
- Bérard, Etienne
- Champion, Gérard
- Cochat, Pierre
- Dubourg, Julie
- de la Faille, Renaud
- Devuyst, Olivier
- Deschenes, Georges
- Fischbach, Michel
- Harambat, Jérôme
- Houillier, Pascal
- Karras, Alexandre
- Knebelmann, Bertrand
- Lavocat, Marie-Pierre
- Loirat, Chantal
- Merieau, Elodie
- Niaudet, Patrick
- Nobili, François
- Novo, Robert
- Salomon, Rémi
- Ulinski, Tim
- Jeunemaître, Xavier
- Vargas-Poussou, Rosa
Producer: 20171003
In:
Kidney international vol. 90
Availability: No items available.
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Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. [electronic resource] by
- Vargas-Poussou, Rosa
- Mansour-Hendili, Lamisse
- Baron, Stéphanie
- Bertocchio, Jean-Philippe
- Travers, Caroline
- Simian, Christophe
- Treard, Cyrielle
- Baudouin, Véronique
- Beltran, Sonia
- Broux, Françoise
- Camard, Odile
- Cloarec, Sylvie
- Cormier, Catherine
- Debussche, Xavier
- Dubosclard, Emmanuelle
- Eid, Celine
- Haymann, Jean-Philippe
- Kiando, Soto Romuald
- Kuhn, Jean-Marc
- Lefort, Guy
- Linglart, Agnes
- Lucas-Pouliquen, Bernadette
- Macher, Marie-Alice
- Maruani, Gérard
- Ouzounian, Sophie
- Polak, Michel
- Requeda, Elisabeth
- Robier, Dominique
- Silve, Caroline
- Souberbielle, Jean-Claude
- Tack, Ivan
- Vezzosi, Delphine
- Jeunemaitre, Xavier
- Houillier, Pascal
Producer: 20170613
In:
The Journal of clinical endocrinology and metabolism vol. 101
Availability: No items available.
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PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. [electronic resource] by
- Kiando, Soto Romuald
- Tucker, Nathan R
- Castro-Vega, Luis-Jaime
- Katz, Alexander
- D'Escamard, Valentina
- Tréard, Cyrielle
- Fraher, Daniel
- Albuisson, Juliette
- Kadian-Dodov, Daniella
- Ye, Zi
- Austin, Erin
- Yang, Min-Lee
- Hunker, Kristina
- Barlassina, Cristina
- Cusi, Daniele
- Galan, Pilar
- Empana, Jean-Philippe
- Jouven, Xavier
- Gimenez-Roqueplo, Anne-Paule
- Bruneval, Patrick
- Hyun Kim, Esther Soo
- Olin, Jeffrey W
- Gornik, Heather L
- Azizi, Michel
- Plouin, Pierre-François
- Ellinor, Patrick T
- Kullo, Iftikhar J
- Milan, David J
- Ganesh, Santhi K
- Boutouyrie, Pierre
- Kovacic, Jason C
- Jeunemaitre, Xavier
- Bouatia-Naji, Nabila
Producer: 20170428
In:
PLoS genetics vol. 12
Availability: No items available.
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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. [electronic resource] by
- Mansour-Hendili, Lamisse
- Blanchard, Anne
- Le Pottier, Nelly
- Roncelin, Isabelle
- Lourdel, Stéphane
- Treard, Cyrielle
- González, Wendy
- Vergara-Jaque, Ariela
- Morin, Gilles
- Colin, Estelle
- Holder-Espinasse, Muriel
- Bacchetta, Justine
- Baudouin, Véronique
- Benoit, Stéphane
- Bérard, Etienne
- Bourdat-Michel, Guylhène
- Bouchireb, Karim
- Burtey, Stéphane
- Cailliez, Mathilde
- Cardon, Gérard
- Cartery, Claire
- Champion, Gerard
- Chauveau, Dominique
- Cochat, Pierre
- Dahan, Karin
- De la Faille, Renaud
- Debray, François-Guillaume
- Dehoux, Laurenne
- Deschenes, Georges
- Desport, Estelle
- Devuyst, Olivier
- Dieguez, Stella
- Emma, Francesco
- Fischbach, Michel
- Fouque, Denis
- Fourcade, Jacques
- François, Hélène
- Gilbert-Dussardier, Brigitte
- Hannedouche, Thierry
- Houillier, Pascal
- Izzedine, Hassan
- Janner, Marco
- Karras, Alexandre
- Knebelmann, Bertrand
- Lavocat, Marie-Pierre
- Lemoine, Sandrine
- Leroy, Valérie
- Loirat, Chantal
- Macher, Marie-Alice
- Martin-Coignard, Dominique
- Morin, Denis
- Niaudet, Patrick
- Nivet, Hubert
- Nobili, François
- Novo, Robert
- Faivre, Laurence
- Rigothier, Claire
- Roussey-Kesler, Gwenaëlle
- Salomon, Remi
- Schleich, Andreas
- Sellier-Leclerc, Anne-Laure
- Soulami, Kenza
- Tiple, Aurélien
- Ulinski, Tim
- Vanhille, Philippe
- Van Regemorter, Nicole
- Jeunemaître, Xavier
- Vargas-Poussou, Rosa
Producer: 20160427
In:
Human mutation vol. 36
Availability: No items available.
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