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S Mancini

Showing results (261-270 of 347) with videos related to

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Nature Genetics|March 22, 2006
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromePaul J Coucke, Andy Willaert, Marja W Wessels, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
The British Journal of Surgery|November 23, 2011
Multicentre observational study of the natural history of left-sided acute diverticulitisG A Binda, A Arezzo, A Serventi, et al.
American Journal of Human Genetics|September 4, 2012
RTTN mutations link primary cilia function to organization of the human cerebral cortexSima Kheradmand Kia, Elly Verbeek, Erik Engelen, et al.
Experimental Neurology|February 13, 2017
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient miceStijn Stroobants, Nathalie G G Van Acker, Frans W Verheijen, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
COL4A2 mutation associated with familial porencephaly and small-vessel diseaseElly Verbeek, Marije E C Meuwissen, Frans W Verheijen, et al.
American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
AJNR. American Journal of Neuroradiology|February 23, 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem MalformationM Gafner, C Garel, Z Leibovitz, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Pageof 35

Showing results (261-270 of 347) with videos related to

Sort By:
Pageof 35
Nature Genetics|March 22, 2006
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromePaul J Coucke, Andy Willaert, Marja W Wessels, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
The British Journal of Surgery|November 23, 2011
Multicentre observational study of the natural history of left-sided acute diverticulitisG A Binda, A Arezzo, A Serventi, et al.
American Journal of Human Genetics|September 4, 2012
RTTN mutations link primary cilia function to organization of the human cerebral cortexSima Kheradmand Kia, Elly Verbeek, Erik Engelen, et al.
Experimental Neurology|February 13, 2017
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient miceStijn Stroobants, Nathalie G G Van Acker, Frans W Verheijen, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
COL4A2 mutation associated with familial porencephaly and small-vessel diseaseElly Verbeek, Marije E C Meuwissen, Frans W Verheijen, et al.
American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
AJNR. American Journal of Neuroradiology|February 23, 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem MalformationM Gafner, C Garel, Z Leibovitz, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Pageof 35