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Elizabeth A Normand

Showing results (1-10 of 12) with videos related to

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Developmental Cell|February 25, 2015
Subcellular patterning: axonal domains with specialized structure and functionElizabeth A Normand, Matthew N Rasband
Fertility and Sterility|February 4, 2018
Exome and genome sequencing in reproductive medicineElizabeth A Normand, Joseph T Alaimo, Ignatia B Van den Veyver
Neuron|May 14, 2013
Temporal and mosaic Tsc1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function, and behaviorElizabeth A Normand, Shane R Crandall, Catherine A Thorn, et al.
HGG Advances|November 21, 2024
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomaliesErfan Aref-Eshghi, Katherine J Anderson, Lauren Boulay, et al.
Prenatal Diagnosis|October 21, 2016
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant womenSteen Kølvraa, Ripudaman Singh, Elizabeth A Normand, et al.
Human Genetics|March 23, 2024
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorderAiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Developmental Cell|February 25, 2015
Subcellular patterning: axonal domains with specialized structure and functionElizabeth A Normand, Matthew N Rasband
Fertility and Sterility|February 4, 2018
Exome and genome sequencing in reproductive medicineElizabeth A Normand, Joseph T Alaimo, Ignatia B Van den Veyver
Neuron|May 14, 2013
Temporal and mosaic Tsc1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function, and behaviorElizabeth A Normand, Shane R Crandall, Catherine A Thorn, et al.
HGG Advances|November 21, 2024
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomaliesErfan Aref-Eshghi, Katherine J Anderson, Lauren Boulay, et al.
Prenatal Diagnosis|October 21, 2016
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant womenSteen Kølvraa, Ripudaman Singh, Elizabeth A Normand, et al.
Human Genetics|March 23, 2024
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorderAiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Pageof 2