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Andrea Superti-Furga

Showing results (1-10 of 234) with videos related to

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European Journal of Pediatrics|October 28, 2003
Glutaric aciduria type 1 and neonatal screening: time to proceed--with cautionAndrea Superti-Furga
American Journal of Medical Genetics. Part A|November 23, 2006
Nosology and classification of genetic skeletal disorders: 2006 revisionAndrea Superti-Furga, Sheila Unger
Italian Journal of Pediatrics|February 23, 2010
Current themes in molecular pediatrics: molecular medicine and its applicationsAndrea Superti-Furga, Livia Garavelli
Best Practice & Research. Clinical Rheumatology|March 11, 2008
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basisSheila Unger, Luisa Bonafé, Andrea Superti-Furga
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Enchondromatosis revisited: new classification with molecular basisAndrea Superti-Furga, Jürgen Spranger, Gen Nishimura
European Journal of Pediatrics|December 25, 2008
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysisHeike Schützle, Johannes Forster, Andrea Superti-Furga, et al.
The FEBS Journal|July 10, 2019
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic viewChiara Paganini, Rossella Costantini, Andrea Superti-Furga, et al.
Orphanet Journal of Rare Diseases|August 20, 2020
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinicsKarim Gariani, Marina Nascimento, Andrea Superti-Furga, et al.
International Journal of Molecular Sciences|April 17, 2020
Skeletal Dysplasias Caused by Sulfation DefectsChiara Paganini, Chiara Gramegna Tota, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndromeAndreas Zankl, Gudrun Jaeger, Luisa Bonafé, et al.
Pageof 24

Showing results (1-10 of 234) with videos related to

Sort By:
Pageof 24
European Journal of Pediatrics|October 28, 2003
Glutaric aciduria type 1 and neonatal screening: time to proceed--with cautionAndrea Superti-Furga
American Journal of Medical Genetics. Part A|November 23, 2006
Nosology and classification of genetic skeletal disorders: 2006 revisionAndrea Superti-Furga, Sheila Unger
Italian Journal of Pediatrics|February 23, 2010
Current themes in molecular pediatrics: molecular medicine and its applicationsAndrea Superti-Furga, Livia Garavelli
Best Practice & Research. Clinical Rheumatology|March 11, 2008
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basisSheila Unger, Luisa Bonafé, Andrea Superti-Furga
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Enchondromatosis revisited: new classification with molecular basisAndrea Superti-Furga, Jürgen Spranger, Gen Nishimura
European Journal of Pediatrics|December 25, 2008
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysisHeike Schützle, Johannes Forster, Andrea Superti-Furga, et al.
The FEBS Journal|July 10, 2019
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic viewChiara Paganini, Rossella Costantini, Andrea Superti-Furga, et al.
Orphanet Journal of Rare Diseases|August 20, 2020
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinicsKarim Gariani, Marina Nascimento, Andrea Superti-Furga, et al.
International Journal of Molecular Sciences|April 17, 2020
Skeletal Dysplasias Caused by Sulfation DefectsChiara Paganini, Chiara Gramegna Tota, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndromeAndreas Zankl, Gudrun Jaeger, Luisa Bonafé, et al.
Pageof 24