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Dan Doherty

Showing results (61-70 of 100) with videos related to

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American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
American Journal of Human Genetics|December 17, 2009
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationAsif Mir, Liana Kaufman, Abdul Noor, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Cilia|March 28, 2017
Abnormal glycosylation in Joubert syndrome type 10Megan S Kane, Mariska Davids, Michelle R Bond, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
Neuron|May 21, 2025
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortexYu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, et al.
HGG Advances|June 5, 2025
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosisJoon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
Pageof 10

Showing results (61-70 of 100) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
American Journal of Human Genetics|December 17, 2009
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationAsif Mir, Liana Kaufman, Abdul Noor, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Cilia|March 28, 2017
Abnormal glycosylation in Joubert syndrome type 10Megan S Kane, Mariska Davids, Michelle R Bond, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
Neuron|May 21, 2025
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortexYu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, et al.
HGG Advances|June 5, 2025
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosisJoon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
Pageof 10