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J Guillen

Showing results (81-90 of 130) with videos related to

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Genome Medicine|July 2, 2026
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunctionYi Liang, Rodrigo Ormazabal-Toledo, Harini Srinivasan, et al.
Clinical Genetics|January 24, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresD Stern, M T Cho, R Chikarmane, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylyRhonda E Schnur, Sairah Yousaf, James Liu, et al.
Clinical Genetics|September 8, 2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetranceZ Powis, K D Farwell Hagman, C Mroske, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 13

Showing results (81-90 of 130) with videos related to

Sort By:
Pageof 13
Genome Medicine|July 2, 2026
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunctionYi Liang, Rodrigo Ormazabal-Toledo, Harini Srinivasan, et al.
Clinical Genetics|January 24, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresD Stern, M T Cho, R Chikarmane, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylyRhonda E Schnur, Sairah Yousaf, James Liu, et al.
Clinical Genetics|September 8, 2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetranceZ Powis, K D Farwell Hagman, C Mroske, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 13