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Orphanet Journal of Rare Diseases
|
January 17, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Tiziano Pramparo, Robert D Steiner, Steve Rodems, et al.
Molecular Autism
|
June 27, 2017
Hierarchical cortical transcriptome disorganization in autism
Michael V Lombardo, Eric Courchesne, Nathan E Lewis, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Laila Zahed, Tiziano Pramparo, Chantal Farra, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 17, 2009
Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice
Yong Ha Youn, Tiziano Pramparo, Shinji Hirotsune, et al.
Seminars in Cell & Developmental Biology
|
August 7, 2010
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies
Anthony Wynshaw-Boris, Tiziano Pramparo, Yong Ha Youn, et al.
European Journal of Medical Genetics
|
September 24, 2005
Narrowing the deleted region associated with the 15q21 syndrome
Tiziano Pramparo, Teresa Mattina, Stefania Gimelli, et al.
Human Molecular Genetics
|
August 13, 2003
TBX1 is required for inner ear morphogenesis
Francesca Vitelli, Antonella Viola, Masae Morishima, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
February 26, 2010
Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction
Tiziano Pramparo, Yong Ha Youn, Jessica Yingling, et al.
Frontiers in Pediatrics
|
June 3, 2026
Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults
Brett J Hoskins, Tiziano Pramparo, Ethan Gough, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 2, 2025
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities
Amy Kritzer, Rana Dutta, Tiziano Pramparo, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 49) with videos related to
Sort By:
Page
of 5
Orphanet Journal of Rare Diseases
|
January 17, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Tiziano Pramparo, Robert D Steiner, Steve Rodems, et al.
Molecular Autism
|
June 27, 2017
Hierarchical cortical transcriptome disorganization in autism
Michael V Lombardo, Eric Courchesne, Nathan E Lewis, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Laila Zahed, Tiziano Pramparo, Chantal Farra, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 17, 2009
Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice
Yong Ha Youn, Tiziano Pramparo, Shinji Hirotsune, et al.
Seminars in Cell & Developmental Biology
|
August 7, 2010
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies
Anthony Wynshaw-Boris, Tiziano Pramparo, Yong Ha Youn, et al.
European Journal of Medical Genetics
|
September 24, 2005
Narrowing the deleted region associated with the 15q21 syndrome
Tiziano Pramparo, Teresa Mattina, Stefania Gimelli, et al.
Human Molecular Genetics
|
August 13, 2003
TBX1 is required for inner ear morphogenesis
Francesca Vitelli, Antonella Viola, Masae Morishima, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
February 26, 2010
Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction
Tiziano Pramparo, Yong Ha Youn, Jessica Yingling, et al.
Frontiers in Pediatrics
|
June 3, 2026
Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults
Brett J Hoskins, Tiziano Pramparo, Ethan Gough, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 2, 2025
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities
Amy Kritzer, Rana Dutta, Tiziano Pramparo, et al.
Page
of 5