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Showing results (371-380 of 430) with videos related to

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Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Pageof 43

Showing results (371-380 of 430) with videos related to

Sort By:
Pageof 43
Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Pageof 43