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Author/Creator Cassatella, Daniele

1. ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed. Issue 3 (March 2021)

Authors:
Avena, Antonella; Puggelli, Sandro; Morris, Michael; Cerny, Andreas; Andrade, Alfredo Repáraz; Pareti, Emmanuela; Bihl, Florian; Cassatella, Daniele; Moix, Isabelle; Merlo, Elisabetta; Rougemont, Anne-Laure; Majno-Hurst, Pietro; Vergani, Diego; Mieli-Vergani, Giorgina; Terziroli Beretta-Piccoli, ...
Journal:
Digestive and liver disease
Issue:
Volume 53:Issue 3(2021)
Page Start:
329
Record Type:
Journal Article
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2. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. Issue 4 (April 2018)

Authors:
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; G...
Journal:
European journal of endocrinology
Issue:
Volume 178:Issue 4(2018)
Page Start:
377
Record Type:
Journal Article
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3. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. (August 2018)

Authors:
Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück, Christa; Feller, Katrin; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew; Marino, Laura; Fav...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 8(2018)
Page Start:
872
Record Type:
Journal Article
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4. KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. Issue 10 (28th July 2017)

Authors:
Xu, Cheng; Messina, Andrea; Somm, Emmanuel; Miraoui, Hichem; Kinnunen, Tarja; Acierno, James; Niederländer, Nicolas J; Bouilly, Justine; Dwyer, Andrew A; Sidis, Yisrael; Cassatella, Daniele; Sykiotis, Gerasimos P; Quinton, Richard; De Geyter, Christian; Dirlewanger, Mirjam; Schwitzgebel, Valérie;...
Journal:
EMBO molecular medicine
Issue:
Volume 9:Issue 10(2017)
Page Start:
1379
Record Type:
Journal Article
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