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J Lockhart

Showing results (351-360 of 393) with videos related to

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Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
The Journal of Infectious Diseases|April 13, 2010
Two nonrecombining sympatric forms of the human malaria parasite Plasmodium ovale occur globallyColin J Sutherland, Naowarat Tanomsing, Debbie Nolder, et al.
European Journal of Medical Genetics|July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory servicesC A Stutterd, A Vanderver, P J Lockhart, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
Science (New York, N.Y.)|June 13, 2024
In vivo editing of lung stem cells for durable gene correction in miceYehui Sun, Sumanta Chatterjee, Xizhen Lian, et al.
Nature Biotechnology|February 16, 2005
A small molecule-kinase interaction map for clinical kinase inhibitorsMiles A Fabian, William H Biggs, Daniel K Treiber, et al.
Science (New York, N.Y.)|February 17, 2022
Demographic implications of lead poisoning for eagles across North AmericaVincent A Slabe, James T Anderson, Brian A Millsap, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
Pageof 40

Showing results (351-360 of 393) with videos related to

Sort By:
Pageof 40
Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
The Journal of Infectious Diseases|April 13, 2010
Two nonrecombining sympatric forms of the human malaria parasite Plasmodium ovale occur globallyColin J Sutherland, Naowarat Tanomsing, Debbie Nolder, et al.
European Journal of Medical Genetics|July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory servicesC A Stutterd, A Vanderver, P J Lockhart, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
Science (New York, N.Y.)|June 13, 2024
In vivo editing of lung stem cells for durable gene correction in miceYehui Sun, Sumanta Chatterjee, Xizhen Lian, et al.
Nature Biotechnology|February 16, 2005
A small molecule-kinase interaction map for clinical kinase inhibitorsMiles A Fabian, William H Biggs, Daniel K Treiber, et al.
Science (New York, N.Y.)|February 17, 2022
Demographic implications of lead poisoning for eagles across North AmericaVincent A Slabe, James T Anderson, Brian A Millsap, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
Pageof 40