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Hyperammonaemic encephalopathy in a 13-year-old boy

Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

An 11-month-old boy with psychomotor regression and auto-aggressive behaviour

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

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Laube, Guido ; Superti-Furga, Andrea ; Losa, Michele ; Büttiker, Vera ; Berger, Christoph ; Neuhaus, Thomas

In: European Journal of Pediatrics, 2002, vol. 161, no. 3, p. 163-164

In: European Journal of Pediatrics, 2003, vol. 162, p. S17-S20

Unger, Sheila ; Paul, David ; Nino, Michelle ; McKay, Charles ; Miller, Stephen ; Sochett, Etienne ; Braverman, Nancy ; Clarke, Joe ; Cole, David ; Superti-Furga, Andrea

In: European Journal of Pediatrics, 2005, vol. 164, no. 4, p. 236-243

Chrysochoou, Christina ; Rutishauser, Christoph ; Rauber-Lüthy, Christine ; Neuhaus, Thomas ; Boltshauser, Eugen ; Superti-Furga, Andrea

In: European Journal of Pediatrics, 2003, vol. 162, no. 7-8, p. 559-561

Balmer, Christian ; Ballhausen, Diana ; Bosshard, Nils ; Steinmann, Beat ; Boltshauser, Eugen ; Bauersfeld, Urs ; Superti-Furga, Andrea

In: European Journal of Pediatrics, 2005, vol. 164, no. 8, p. 509-514

Jequier Gygax, Marine ; Roulet-Perez, Eliane ; Meagher-Villemure, Kathleen ; Jakobs, Cornelis ; Salomons, Gajja ; Boulat, Olivier ; Superti-Furga, Andrea ; Ballhausen, Diana ; Bonafé, Luisa

In: European Journal of Pediatrics, 2009, vol. 168, no. 8, p. 957-962

Monti, Luca ; Paganini, Chiara ; Lecci, Silvia ; De Leonardis, Fabio ; Hay, Eric ; Cohen-Solal, Martine ; Villani, Simona ; Superti-Furga, Andrea ; Tenni, Ruggero ; Forlino, Antonella ; Rossi, Antonio

In: Human Molecular Genetics, 2015, vol. 24, no. 19, p. 5570-5580

Forlino, Antonella ; Piazza, Rocco ; Tiveron, Cecilia ; Torre, Sara Della ; Tatangelo, Laura ; Bonafè, Luisa ; Gualeni, Benedetta ; Romano, Assunta ; Pecora, Fabio ; Superti-Furga, Andrea ; Cetta, Giuseppe ; Rossi, Antonio

In: Human Molecular Genetics, 2005, vol. 14, no. 6, p. 859-871

Shaheen, Ranad ; Schmidts, Miriam ; Faqeih, Eissa ; Hashem, Amal ; Lausch, Ekkehart ; Holder, Isabel ; Superti-Furga, Andrea ; Mitchison, Hannah M. ; Almoisheer, Agaadir ; Alamro, Rana ; Alshiddi, Tarfa ; Alzahrani, Fatma ; Beales, Philip L. ; Alkuraya, Fowzan S.

In: Human Molecular Genetics, 2015, vol. 24, no. 5, p. 1410-1419

In: Human Molecular Genetics, 1999, vol. 8, no. 9, p. 1769-1777