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Andrea Superti-Furga

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Molecular Genetics and Metabolism Reports|April 25, 2025
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experienceFlutura Sadiku, Tobias Rutz, Andrea Superti-Furga, et al.
The Journal of Pediatrics|May 29, 2002
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalMarkus A Landolt, Jean-Marc Nuoffer, Beat Steinmann, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutationElisabeth Bruder, Thomas Stallmach, Karin Peier, et al.
Pediatric Nephrology (Berlin, Germany)|February 13, 2007
L1CAM mutation in a boy with hydrocephalus and duplex kidneysMax Christoph Liebau, Andreas Gal, Andrea Superti-Furga, et al.
The EMBO Journal|January 5, 2012
The dark sides of capillary morphogenesis gene 2Julie Deuquet, Ekkehart Lausch, Andrea Superti-Furga, et al.
Rheumatology International|June 24, 2003
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathyStephan Ehl, Markus Uhl, Reinhard Berner, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 27, 2009
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetusCharis Kepron, Andrea Blumenthal, David Chitayat, et al.
Revue Medicale Suisse|July 20, 2017
[Next generation sequencing : a diagnostic tool for inherited immune defects]Stéphanie Droz-Georget, Orbicia Riccio, Béryl Royer-Bertrand, et al.
Orphanet Journal of Rare Diseases|February 23, 2023
Overweight and obesity in adult patients with phenylketonuria: a systematic reviewAurel T Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, et al.
Indian Journal of Pediatrics|April 9, 2013
Acampomelic form of campomelic dysplasia with SOX9 missense mutationHariharan Gopakumar, Andrea Superti-Furga, Sheila Unger, et al.
Pageof 24

Showing results (11-20 of 234) with videos related to

Sort By:
Pageof 24
Molecular Genetics and Metabolism Reports|April 25, 2025
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experienceFlutura Sadiku, Tobias Rutz, Andrea Superti-Furga, et al.
The Journal of Pediatrics|May 29, 2002
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalMarkus A Landolt, Jean-Marc Nuoffer, Beat Steinmann, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutationElisabeth Bruder, Thomas Stallmach, Karin Peier, et al.
Pediatric Nephrology (Berlin, Germany)|February 13, 2007
L1CAM mutation in a boy with hydrocephalus and duplex kidneysMax Christoph Liebau, Andreas Gal, Andrea Superti-Furga, et al.
The EMBO Journal|January 5, 2012
The dark sides of capillary morphogenesis gene 2Julie Deuquet, Ekkehart Lausch, Andrea Superti-Furga, et al.
Rheumatology International|June 24, 2003
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathyStephan Ehl, Markus Uhl, Reinhard Berner, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 27, 2009
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetusCharis Kepron, Andrea Blumenthal, David Chitayat, et al.
Revue Medicale Suisse|July 20, 2017
[Next generation sequencing : a diagnostic tool for inherited immune defects]Stéphanie Droz-Georget, Orbicia Riccio, Béryl Royer-Bertrand, et al.
Orphanet Journal of Rare Diseases|February 23, 2023
Overweight and obesity in adult patients with phenylketonuria: a systematic reviewAurel T Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, et al.
Indian Journal of Pediatrics|April 9, 2013
Acampomelic form of campomelic dysplasia with SOX9 missense mutationHariharan Gopakumar, Andrea Superti-Furga, Sheila Unger, et al.
Pageof 24