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Andrea Superti-Furga

Showing results (21-30 of 234) with videos related to

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Brain & Development|October 8, 2010
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC diseaseSarah Catharina Grünert, Brian Fowler, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|April 11, 2016
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidismFrancesca Mattioli, Amelie Piton, Bénédicte Gérard, et al.
Orphanet Journal of Rare Diseases|July 19, 2024
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classificationRaymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, et al.
Molecular Genetics and Metabolism Reports|March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature reviewIsis Atallah, Diego San Millán, Wicki Benoît, et al.
The Biochemical Journal|May 25, 2006
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfationFabio Pecora, Benedetta Gualeni, Antonella Forlino, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 18, 2008
Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German populationAndrea Heinzmann, Markus Brugger, Christina Engels, et al.
BMC Musculoskeletal Disorders|June 8, 2010
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case reportTimo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, et al.
Clinical Dysmorphology|December 17, 2004
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineationAhmet Bayar, Ceyda Acun, Ahmet Dursun, et al.
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|September 28, 2021
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and LimitationsBeryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, et al.
Pageof 24

Showing results (21-30 of 234) with videos related to

Sort By:
Pageof 24
Brain & Development|October 8, 2010
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC diseaseSarah Catharina Grünert, Brian Fowler, Andrea Superti-Furga, et al.
American Journal of Medical Genetics. Part A|April 11, 2016
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidismFrancesca Mattioli, Amelie Piton, Bénédicte Gérard, et al.
Orphanet Journal of Rare Diseases|July 19, 2024
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classificationRaymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, et al.
Molecular Genetics and Metabolism Reports|March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature reviewIsis Atallah, Diego San Millán, Wicki Benoît, et al.
The Biochemical Journal|May 25, 2006
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfationFabio Pecora, Benedetta Gualeni, Antonella Forlino, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 18, 2008
Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German populationAndrea Heinzmann, Markus Brugger, Christina Engels, et al.
BMC Musculoskeletal Disorders|June 8, 2010
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case reportTimo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, et al.
Clinical Dysmorphology|December 17, 2004
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineationAhmet Bayar, Ceyda Acun, Ahmet Dursun, et al.
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|September 28, 2021
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and LimitationsBeryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, et al.
Pageof 24