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Alex R Paciorkowski

Showing results (21-30 of 55) with videos related to

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Bioinformatics (Oxford, England)|July 28, 2011
VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studiesIgor Lukashin, Pavel Novichkov, Dario Boffelli, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applicationsGhayda M Mirzaa, Kathleen J Millen, A James Barkovich, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2007
Motion analysis of a child with Niemann-Pick disease type C treated with miglustatAlex R Paciorkowski, Melany Westwell, Sylvia Ounpuu, et al.
Epilepsia|May 20, 2014
Epilepsy and outcome in FOXG1-related disordersLaurie E Seltzer, Mandy Ma, Sohnee Ahmed, et al.
American Journal of Medical Genetics. Part A|August 5, 2011
The microcephaly-capillary malformation syndromeGhayda M Mirzaa, Alex R Paciorkowski, Christopher D Smyser, et al.
Child Neurology Open|October 21, 2017
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the LiteratureTina Hsu, Carrie C Coughlin, Kristin G Monaghan, et al.
Gait & Posture|July 10, 2012
Balance impairment in individuals with Wolfram syndromeKristen A Pickett, Ryan P Duncan, Alex R Paciorkowski, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphologyChristoph Pröschel, Jeanne N Hansen, Adil Ali, et al.
Human Genetics|April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGhayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
Journal of Inherited Metabolic Disease|August 28, 2021
A diagnostic confidence scheme for CLN3 diseaseMargaux C Masten, Camille Corre, Alex R Paciorkowski, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
Bioinformatics (Oxford, England)|July 28, 2011
VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studiesIgor Lukashin, Pavel Novichkov, Dario Boffelli, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applicationsGhayda M Mirzaa, Kathleen J Millen, A James Barkovich, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2007
Motion analysis of a child with Niemann-Pick disease type C treated with miglustatAlex R Paciorkowski, Melany Westwell, Sylvia Ounpuu, et al.
Epilepsia|May 20, 2014
Epilepsy and outcome in FOXG1-related disordersLaurie E Seltzer, Mandy Ma, Sohnee Ahmed, et al.
American Journal of Medical Genetics. Part A|August 5, 2011
The microcephaly-capillary malformation syndromeGhayda M Mirzaa, Alex R Paciorkowski, Christopher D Smyser, et al.
Child Neurology Open|October 21, 2017
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the LiteratureTina Hsu, Carrie C Coughlin, Kristin G Monaghan, et al.
Gait & Posture|July 10, 2012
Balance impairment in individuals with Wolfram syndromeKristen A Pickett, Ryan P Duncan, Alex R Paciorkowski, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphologyChristoph Pröschel, Jeanne N Hansen, Adil Ali, et al.
Human Genetics|April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGhayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
Journal of Inherited Metabolic Disease|August 28, 2021
A diagnostic confidence scheme for CLN3 diseaseMargaux C Masten, Camille Corre, Alex R Paciorkowski, et al.
Pageof 6