Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

द्वारा Kalfa, Nicolas, Fukami, Maki, Philibert, Pascal, Audran, Francoise, Pienkowski, Catherine, Weill, Jacques, Pinto, Graziella, Manouvrier, Sylvie, Polak, Michel, Ogata, Totsumo, Sultan, Charles
प्रकाशित 2012

Is ghrelin a biomarker of early-onset scoliosis in children with Prader–Willi syndrome?

द्वारा Pacoricona Alfaro, Dibia Liz, Diene, Gwenaelle, Pinto, Graziella, Salles, Jean-Pierre, Gennero, Isabelle, Faye, Sandy, Molinas, Catherine, Valette, Marion, Arnaud, Catherine, Tauber, Maithé
में प्रकाशित Orphanet J Rare Dis (2021)

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

द्वारा Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie
में प्रकाशित Am J Hum Genet (2016)

Effect of topiramate on eating behaviours in Prader-Willi syndrome: TOPRADER double-blind randomised placebo-controlled study

द्वारा Consoli, Angèle, Çabal Berthoumieu, Sophie, Raffin, Marie, Thuilleaux, Denise, Poitou, Christine, Coupaye, Muriel, Pinto, Graziella, Lebbah, Said, Zahr, Noel, Tauber, Maïthé, Cohen, David, Bonnot, Olivier
में प्रकाशित Transl Psychiatry (2019)

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

द्वारा Pacoricona Alfaro, Dibia Liz, Lemoine, Perrine, Ehlinger, Virginie, Molinas, Catherine, Diene, Gwénaëlle, Valette, Marion, Pinto, Graziella, Coupaye, Muriel, Poitou-Bernert, Christine, Thuilleaux, Denise, Arnaud, Catherine, Tauber, Maithé
में प्रकाशित Orphanet J Rare Dis (2019)

Transition of young adults with endocrine and metabolic diseases: the ‘TRANSEND’ cohort

द्वारा Le Roux, Enora, Menesguen, Florence, Tejedor, Isabelle, Popelier, Marc, Halbron, Marine, Faucher, Pauline, Malivoir, Sabine, Pinto, Graziella, Léger, Juliane, Hatem, Stephane, Polak, Michel, Poitou, Christine, Touraine, Philippe
में प्रकाशित Endocr Connect (2020)

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients

द्वारा Coupaye, Muriel, Laurier, Virginie, Benvegnu, Grégoire, Poitou, Christine, Faucher, Pauline, Mosbah, Héléna, Diene, Gwenaelle, Pinto, Graziella, Briceño, Laura González, Merrien, Christine, Toyos, Ana Camarena, Montastier, Emilie, Tauber, Maithé, Mourre, Fabien
में प्रकाशित Orphanet J Rare Dis (2021)

Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis

द्वारा Morelle, Guillaume, Castelle, Martin, Pinto, Graziella, Breton, Sylvain, Bendavid, Matthieu, Boussard, Charlotte, Mouy, Richard, Bader-Meunier, Brigitte, Semeraro, Michaela, Faye, Albert, Cavazzana, Marina, Neven, Bénédicte, Blanche, Stéphane, Quartier, Pierre, Moshous, Despina
में प्रकाशित Pediatr Rheumatol Online J (2021)

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

द्वारा Stoupa, Athanasia, Al Hage Chehade, Ghada, Chaabane, Rim, Kariyawasam, Dulanjalee, Szinnai, Gabor, Hanein, Sylvain, Bole-Feysot, Christine, Fourrage, Cécile, Nitschke, Patrick, Thalassinos, Caroline, Pinto, Graziella, Mnif, Mouna, Baron, Sabine, De Kerdanet, Marc, Reynaud, Rachel, Barat, Pascal, Hachicha, Mongia, Belguith, Neila, Polak, Michel, Carré, Aurore
में प्रकाशित Front Endocrinol (Lausanne) (2021)

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

द्वारा Mauhin, Wladimir, Habarou, Florence, Gobin, Stéphanie, Servais, Aude, Brassier, Anaïs, Grisel, Coraline, Roda, Célina, Pinto, Graziella, Moshous, Despina, Ghalim, Fahd, Krug, Pauline, Deltour, Nelly, Pontoizeau, Clément, Dubois, Sandrine, Assoun, Murielle, Galmiche, Louise, Bonnefont, Jean-Paul, Ottolenghi, Chris, de Blic, Jacques, Arnoux, Jean-Baptiste, de Lonlay, Pascale
में प्रकाशित Orphanet J Rare Dis (2017)