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Himanshu Goel

Showing results (71-80 of 121) with videos related to

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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
Developmental Medicine and Child Neurology|June 10, 2021
Severe speech impairment is a distinguishing feature of FOXP1-related disorderRuth O Braden, David J Amor, Simon E Fisher, et al.
Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.
Neurology. Genetics|August 12, 2024
Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Plos One|January 24, 2014
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36Hitisha P Zaveri, Tyler F Beck, Andrés Hernández-García, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.
Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Research Square|April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Pageof 13

Showing results (71-80 of 121) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
Developmental Medicine and Child Neurology|June 10, 2021
Severe speech impairment is a distinguishing feature of FOXP1-related disorderRuth O Braden, David J Amor, Simon E Fisher, et al.
Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.
Neurology. Genetics|August 12, 2024
Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Plos One|January 24, 2014
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36Hitisha P Zaveri, Tyler F Beck, Andrés Hernández-García, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.
Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Research Square|April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Pageof 13