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Unmet Medical Needs in Pediatric Endocrinology: A Position Statement from the European Society for Paediatric Endocrinology Clinical Practice Committee and Council Joint Initiative 儿科内分泌学领域的未满足医疗需求:欧洲儿科内分泌学会临床实践委员会与理事会联合倡议的立场声明 Cianfarani, Stefano; Aftab, Sommayya; Busiah, Kanetee; German, Alina; Kyriaku, Andreas; Paltoglou, George; Shah, Patrik; Street, Maria Elisabeth; Wong, Sze Choong; Banerjee, Indraneel; Gevers, Evelien; Kuehnen, Peter; Hokken-Koelega, Anita; Iotova, Violeta; Maghnie, Mohamad; Verkauskiene, Rasa; Dattani, Mehul 分享 收藏
The gender incongruence module in the European Registries for Rare Endocrine & Bone Conditions (EuRREB): first results, current insights, and future directions 欧洲罕见内分泌与骨骼疾病登记系统(EuRREB)中的性别不一致模块:初步结果、当前见解和未来方向 Ciancia, Silvia; Cherenko, Mariya; Klink, Daniel; Busiah, Kanetee; Gawlik-Starzyk, Aneta; Kempinska, Wiktoria; van der Grinten, Hedi L.; Ahmed, S. Faisal; Hannema, Sabine E.; Cools, Martine 分享 收藏
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study Busiah, Kanetee; Roda, Celina; Crosnier, Anne-Sophie; Brassier, Anais; Servais, Aude; Wicker, Camille; Dubois, Sandrine; Assoun, Murielle; Belloche, Claire; Ottolenghi, Chris; Pontoizeau, Clement; Souberbielle, Jean-Claude; Piketty, Marie-Liesse; Perin, Laurence; Le Bouc, Yves; Arnoux, Jean -Baptiste; Netchine, Irene; Imbard, Apolline; de Lonlay, Pascale 分享 收藏
Mosaic RASopathies concept: different skin lesions, same systemic manifestations? Morren, Marie-Anne; Fodstad, Heidi; Brems, Hilde; Bedoni, Nicola; Guenova, Emmanuella; Jacot-Guillarmod, Martine; Busiah, Kanetee; Giuliano, Fabienne; Gilliet, Michel; Atallah, Isis 分享 收藏
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved 特纳综合征: 皮肤,肝脏,眼睛,牙齿和耳鼻音评估应得到改善 Lam, Jenny; Stoppa-Vaucher, Sophie; Antoniou, Maria Cristina; Bouthors, Therese; Ruiz, Inge; Sekarski, Nicole; Rutz, Tobias; Fries, Sophie; Binz, Pierre Alain; Buetschi, Florence Niel; Vulliemoz, Nicolas; Gawlik, Aneta; Pitteloud, Nelly; Hauschild, Michael; Busiah, Kanetee 分享 收藏
Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor Treatment Rosimont, Manon; Kariyawasam, Dulanjalee; Samara-Boustani, Dinane; Giani, Elisa; Beltrand, Jacques; Bolle, Stephanie; Fresneau, Brice; Puget, Stephanie; Sainte-Rose, Christian; Alapetite, Claire; Pinto, Graziella; Touraine, Philippe; Piketty, Marie-Liesse; Brabant, Severine; Abbou, Samuel; Aerts, Isabelle; Beccaria, Kevin; Bourgeois, Marie; Roujeau, Thomas; Blauwblomme, Thomas; Di Rocco, Federico; Thalassinos, Caroline; Rigaud, Charlotte; James, Syril; Busiah, Kanetee; Simon, Albane; Bourdeaut, Franck; Lemelle, Lauriane; Guerrini-Rousseau, Lea; Orbach, Daniel; Doz, Francois; Dufour, Christelle; Grill, Jacques; Polak, Michel; Briceno, Laura Gonzalez 分享 收藏
High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort Briceno, Laura Gabriela Gonzalez; Kariyawasam, Dulanjalee; Samara-Boustani, Dinane; Giani, Elisa; Beltrand, Jacques; Bolle, Stephanie; Fresneau, Brice; Puget, Stephanie; Sainte-Rose, Christian; Alapetite, Claire; Pinto, Graziella; Piketty, Marie-Liesse; Brabant, Severine; Abbou, Samuel; Aerts, Isabelle; Beccaria, Kevin; Bourgeois, Marie; Roujeau, Thomas; Blauwblomme, Thomas; Di Rocco, Federico; Thalassinos, Caroline; Pauwels, Christian; Rigaud, Charlotte; James, Syril; Busiah, Kanetee; Simon, Albane; Bourdeaut, Franck; Lemelle, Lauriane; Guerrini-Rousseau, Lea; Orbach, Daniel; Touraine, Philippe; Doz, Francois; Dufour, Christelle; Grill, Jacques; Polak, Michel 分享 收藏
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population El Allali, Yasmine; Hermetet, Coralie; Bacchetta, Justine; Amouroux, Cyril; Rothenbuhler, Anya; Porquet-Bordes, Valerie; Champigny, Marie-Alexandrine; Baron, Sabine; Barat, Pascal; Bony-Trifunovic, Helene; Bourdet, Karine; Busiah, Kanetee; Cartigny-Maciejewski, Maryse; Compain, Florence; Coutant, Regis; Amsellem-Jager, Jessica; De Kerdanet, Marc; Magontier, Nathalie; Mignot, Brigitte; Richard, Odile; Rossignol, Sylvie; Soskin, Sylvie; Berot, Aurelie; Naud-Saudreau, Catherine; Salles, Jean-Pierre; Linglart, Agnes; Edouard, Thomas; Lienhardt-Roussie, Anne 分享 收藏
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study Le Bourgeois, Fleur; Beltrand, Jacques; Baz, Baz; Julla, Jean-Baptiste; Riveline, Jean-Pierre; Simon, Albane; Flechtner, Isabelle; Ait Djoudi, Malek; Fauret-Amsellem, Anne-Laure; Vial, Yoann; Scharfmann, Raphael; Sommet, Julie; Boudou, Philippe; Cave, Helene; Polak, Michel; Gautier, Jean-Francois; Busiah, Kanetee 分享 收藏
Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes Beltrand, Jacques; Baptiste, Amandine; Busiah, Kanetee; Bouazza, Naim; Godot, Cecile; Boucheron, Adeline; Djerada, Zoubir; Gozalo, Claire; Berdugo, Marianne; Treluyer, Jean-Marc; Elie, Caroline; Polak, Michel; Le Tallec, Claire; Ser, Nicole; Cartigny, Maryse; Weill, Jacques; Baron, Sabine; Ramos-Caldagues, Emmanuelle; Bruel, Henri; Lienhardt-Roussie, Anne 分享 收藏
Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone Briceno, Laura G. Gonzalez; Viaud, Magali; Beltrand, Jacques; Flechtner, Isabelle; Dassa, Yamina; Samara-Boustani, Dinane; Thalassinos, Caroline; Pauwels, Christian; Busiah, Kanetee; Pinto, Graziella; Jaquet, Delphine; Polak, Michel 分享 收藏
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A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome Hancili, Suna; Bonnefond, Amelie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean-Jacques; Polak, Michel; Froguel, Philippe; Guven, Ayla; Vaxillaire, Martine 分享 收藏
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale 分享 收藏
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations (vol 38, pg 2033, 2015) Beltrand, Jacques; Elie, Caroline; Busiah, Kanetee; Fournier, Emmanuel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Vera, Miriam; Bui-Quoc, Emmanuel; Ingster-Moati, Isabelle; Berdugo, Marianne; Simon, Albane; Gozalo, Claire; Djerada, Zoubir; Flechtner, Isabelle; Treluyer, Jean-Marc; Scharfmann, Raphael; Cave, Helene; Vaivre-Douret, Laurence; Polak, Michel 分享 收藏
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations Beltrand, Jacques; Elie, Caroline; Busiah, Kanetee; Fournier, Emmanuel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Vera, Miriam; Bui-Quoc, Emmanuel; Ingster-Moati, Isabelle; Berdugo, Marianne; Simon, Albane; Gozalo, Claire; Djerada, Zoubir; Flechtner, Isabelle; Treluyer, Jean-Marc; Scharfmann, Raphael; Cave, Helene; Vaivre-Douret, Laurence; Polak, Michel 分享 收藏
RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells Chandra, Vikash; Albagli-Curiel, Olivier; Hastoy, Benoit; Piccand, Julie; Randriamampita, Clotilde; Vaillant, Emmanuel; Cave, Helene; Busiah, Kanetee; Froguel, Philippe; Vaxillaire, Martine; Rorsman, Patrik; Polak, Michel; Scharfmann, Raphael 分享 收藏
Childhood Craniopharyngioma: Hypothalamus-Sparing Surgery Decreases the Risk of Obesity Elowe-Gruau, E.; Beltrand, J.; Brauner, R.; Pinto, G.; Samara-Boustani, D.; Thalassinos, C.; Busiah, K.; Laborde, K.; Boddaert, N.; Zerah, M.; Alapetite, C.; Grill, J.; Touraine, P.; Sainte-Rose, C.; Polak, M.; Puget, S. 分享 收藏
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