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S Mancini

Showing results (221-230 of 347) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
A novel family illustrating the mild phenotypic spectrum of TUBB2B variantsJordy Dekker, Karin E M Diderich, Rachel Schot, et al.
Archives of Neurology|March 12, 2008
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classificationMarie Claire Yvette de Wit, Maarten H Lequin, Ireneaus F M de Coo, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disabilityLaura J C M van Zutven, Grazia M S Mancini, Karen G C B Bindels-de Heus, et al.
The Journal of Physical Chemistry. A|September 6, 2024
Multireference Averaged Quadratic Coupled Cluster (MR-AQCC) Study of the Geometries and Energies for <i>ortho</i>-, <i>meta</i>- and <i>para</i>-BenzyneKhanh Vu, Joshua Pandian, Boyi Zhang, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXRenske Oegema, Anneke Maat-Kievit, Maarten H Lequin, et al.
Parkinsonism & Related Disorders|August 22, 2019
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish familyDemy J S Kuipers, Zeynep Tufekcioglu, Başar Bilgiç, et al.
Cell Reports|August 8, 2019
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary CiliaAna Uzquiano, Carmen Cifuentes-Diaz, Ammar Jabali, et al.
Brain : a Journal of Neurology|August 12, 2020
Definitions and classification of malformations of cortical development: practical guidelinesMariasavina Severino, Ana Filipa Geraldo, Norbert Utz, et al.
Plos Genetics|April 27, 2018
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndromeRaffaella De Pace, Miguel Skirzewski, Markus Damme, et al.
Human Molecular Genetics|May 15, 2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulinsRavinesh A Kumar, Daniela T Pilz, Timothy D Babatz, et al.
Pageof 35

Showing results (221-230 of 347) with videos related to

Sort By:
Pageof 35
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
A novel family illustrating the mild phenotypic spectrum of TUBB2B variantsJordy Dekker, Karin E M Diderich, Rachel Schot, et al.
Archives of Neurology|March 12, 2008
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classificationMarie Claire Yvette de Wit, Maarten H Lequin, Ireneaus F M de Coo, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disabilityLaura J C M van Zutven, Grazia M S Mancini, Karen G C B Bindels-de Heus, et al.
The Journal of Physical Chemistry. A|September 6, 2024
Multireference Averaged Quadratic Coupled Cluster (MR-AQCC) Study of the Geometries and Energies for <i>ortho</i>-, <i>meta</i>- and <i>para</i>-BenzyneKhanh Vu, Joshua Pandian, Boyi Zhang, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXRenske Oegema, Anneke Maat-Kievit, Maarten H Lequin, et al.
Parkinsonism & Related Disorders|August 22, 2019
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish familyDemy J S Kuipers, Zeynep Tufekcioglu, Başar Bilgiç, et al.
Cell Reports|August 8, 2019
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary CiliaAna Uzquiano, Carmen Cifuentes-Diaz, Ammar Jabali, et al.
Brain : a Journal of Neurology|August 12, 2020
Definitions and classification of malformations of cortical development: practical guidelinesMariasavina Severino, Ana Filipa Geraldo, Norbert Utz, et al.
Plos Genetics|April 27, 2018
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndromeRaffaella De Pace, Miguel Skirzewski, Markus Damme, et al.
Human Molecular Genetics|May 15, 2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulinsRavinesh A Kumar, Daniela T Pilz, Timothy D Babatz, et al.
Pageof 35