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Miles D Thompson

Showing results (31-40 of 38) with videos related to

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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 27, 2004
Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidityMiles D Thompson, David E Comings, Rashid Abu-Ghazalah, et al.
Pharmacogenetics|September 30, 2003
A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da CunhaMiles D Thompson, Karin Storm van's Gravesande, Helen Galczenski, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndromeMiles D Thompson, Marjan M Nezarati, Gabriele Gillessen-Kaesbach, et al.
American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 27, 2004
Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidityMiles D Thompson, David E Comings, Rashid Abu-Ghazalah, et al.
Pharmacogenetics|September 30, 2003
A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da CunhaMiles D Thompson, Karin Storm van's Gravesande, Helen Galczenski, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndromeMiles D Thompson, Marjan M Nezarati, Gabriele Gillessen-Kaesbach, et al.
American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
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