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Himanshu Goel

Showing results (61-70 of 121) with videos related to

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European Journal of Medical Genetics|October 18, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletionsBenjamin Kamien, M Cristina Digilio, Antonio Novelli, et al.
Clinical Genetics|January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetranceMelanie Leffler, Louise Christie, Anna Hackett, et al.
Neurology|February 16, 2021
Speech, Language, and Oromotor Skills in Patients With PolymicrogyriaRuth O Braden, Jessica O Boyce, Chloe A Stutterd, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Expanding the phenotype of intellectual disability caused by HIVEP2 variantsHeidi Goldsmith, Anna Wells, Maria J N Sá, et al.
Cerebellum (London, England)|May 23, 2015
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in HumansGiorgia Mandrile, Eleonora Di Gregorio, Himanshu Goel, et al.
Developmental Medicine and Child Neurology|February 22, 2025
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disordersRussell C Dale, Shekeeb Mohammad, Velda X Han, et al.
American Journal of Medical Genetics. Part A|January 11, 2013
Maternal attitudes to newborn screening for fragile X syndromeLouise Christie, Tiffany Wotton, Bruce Bennetts, et al.
Clinical Dysmorphology|July 6, 2019
Expansion of phenotype of DDX3X syndrome: six new casesBryony Beal, Ian Hayes, Julie McGaughran, et al.
Journal of Medical Genetics|January 25, 2024
Genotype and phenotype correlation of <i>PHACTR1</i>-related neurological disordersZhao Xu, Lynette Sadleir, Himanshu Goel, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndromeWhitney Eng, Ionela Iacobas, Jonathan Perkins, et al.
Pageof 13

Showing results (61-70 of 121) with videos related to

Sort By:
Pageof 13
European Journal of Medical Genetics|October 18, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletionsBenjamin Kamien, M Cristina Digilio, Antonio Novelli, et al.
Clinical Genetics|January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetranceMelanie Leffler, Louise Christie, Anna Hackett, et al.
Neurology|February 16, 2021
Speech, Language, and Oromotor Skills in Patients With PolymicrogyriaRuth O Braden, Jessica O Boyce, Chloe A Stutterd, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Expanding the phenotype of intellectual disability caused by HIVEP2 variantsHeidi Goldsmith, Anna Wells, Maria J N Sá, et al.
Cerebellum (London, England)|May 23, 2015
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in HumansGiorgia Mandrile, Eleonora Di Gregorio, Himanshu Goel, et al.
Developmental Medicine and Child Neurology|February 22, 2025
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disordersRussell C Dale, Shekeeb Mohammad, Velda X Han, et al.
American Journal of Medical Genetics. Part A|January 11, 2013
Maternal attitudes to newborn screening for fragile X syndromeLouise Christie, Tiffany Wotton, Bruce Bennetts, et al.
Clinical Dysmorphology|July 6, 2019
Expansion of phenotype of DDX3X syndrome: six new casesBryony Beal, Ian Hayes, Julie McGaughran, et al.
Journal of Medical Genetics|January 25, 2024
Genotype and phenotype correlation of <i>PHACTR1</i>-related neurological disordersZhao Xu, Lynette Sadleir, Himanshu Goel, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndromeWhitney Eng, Ionela Iacobas, Jonathan Perkins, et al.
Pageof 13