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Andrea Superti-Furga

Showing results (131-140 of 234) with videos related to

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American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing countrySheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, et al.
American Journal of Human Genetics|February 9, 2006
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismJorn Oliver Sass, Verena Mohr, Heike Olbrich, et al.
Journal of Medical Genetics|January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyrationMaria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
Pageof 24

Showing results (131-140 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing countrySheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, et al.
American Journal of Human Genetics|February 9, 2006
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismJorn Oliver Sass, Verena Mohr, Heike Olbrich, et al.
Journal of Medical Genetics|January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyrationMaria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
Pageof 24