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Andrea Superti-Furga

Showing results (71-80 of 234) with videos related to

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American Journal of Medical Genetics. Part A|September 5, 2003
Prenatal diagnosis of boomerang dysplasiaMarja W Wessels, Nicolette S Den Hollander, Ronald R De Krijger, et al.
Novartis Foundation Symposium|November 24, 2006
Insights from a transgenic mouse model on the role of SLC26A2 in health and diseaseAntonella Forlino, Benedetta Gualeni, Fabio Pecora, et al.
Frontiers in Genetics|July 5, 2021
Case Report: A Rare Truncating Variant of the <i>CFHR5</i> Gene in IgA NephropathyGabriella Guzzo, Salima Sadallah, Heidi Fodstad, et al.
Revue Medicale Suisse|December 10, 2020
[Advances in the treatment of complex venous malformation: endovenous laser]Marco Fresa, Barbara Ney, Salah D Qanadli, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|May 18, 2010
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signallingBenedetta Gualeni, Marcella Facchini, Fabio De Leonardis, et al.
Skeletal Radiology|March 12, 2009
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patientsOk-Hwa Kim, Tae-Joon Cho, Hae-Ryong Song, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosisFrancesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, et al.
Med (New York, N.Y.)|March 31, 2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screeningAlexey Koval, Yonika A Larasati, Mikhail Savitsky, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
Pageof 24

Showing results (71-80 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|September 5, 2003
Prenatal diagnosis of boomerang dysplasiaMarja W Wessels, Nicolette S Den Hollander, Ronald R De Krijger, et al.
Novartis Foundation Symposium|November 24, 2006
Insights from a transgenic mouse model on the role of SLC26A2 in health and diseaseAntonella Forlino, Benedetta Gualeni, Fabio Pecora, et al.
Frontiers in Genetics|July 5, 2021
Case Report: A Rare Truncating Variant of the <i>CFHR5</i> Gene in IgA NephropathyGabriella Guzzo, Salima Sadallah, Heidi Fodstad, et al.
Revue Medicale Suisse|December 10, 2020
[Advances in the treatment of complex venous malformation: endovenous laser]Marco Fresa, Barbara Ney, Salah D Qanadli, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|May 18, 2010
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signallingBenedetta Gualeni, Marcella Facchini, Fabio De Leonardis, et al.
Skeletal Radiology|March 12, 2009
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patientsOk-Hwa Kim, Tae-Joon Cho, Hae-Ryong Song, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosisFrancesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, et al.
Med (New York, N.Y.)|March 31, 2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screeningAlexey Koval, Yonika A Larasati, Mikhail Savitsky, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
Pageof 24