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J Kaiser

Showing results (571-580 of 621) with videos related to

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American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.
Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
Cell Host & Microbe|June 21, 2016
RIPK3 Activates Parallel Pathways of MLKL-Driven Necroptosis and FADD-Mediated Apoptosis to Protect against Influenza A VirusShoko Nogusa, Roshan J Thapa, Christopher P Dillon, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.
Atmospheric Chemistry and Physics|April 6, 2018
Formaldehyde production from isoprene oxidation across NO<sub>x</sub> regimesG M Wolfe, J Kaiser, T F Hanisco, et al.
Pageof 63

Showing results (571-580 of 621) with videos related to

Sort By:
Pageof 63
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.
Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
Cell Host & Microbe|June 21, 2016
RIPK3 Activates Parallel Pathways of MLKL-Driven Necroptosis and FADD-Mediated Apoptosis to Protect against Influenza A VirusShoko Nogusa, Roshan J Thapa, Christopher P Dillon, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.
Atmospheric Chemistry and Physics|April 6, 2018
Formaldehyde production from isoprene oxidation across NO<sub>x</sub> regimesG M Wolfe, J Kaiser, T F Hanisco, et al.
Pageof 63