Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Lakshmi Mehta

Showing results (31-40 of 45) with videos related to

Pageof 5
Sort By:
European Journal of Medical Genetics|March 21, 2009
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human heightKaren Buysse, William Reardon, Lakshmi Mehta, et al.
Cold Spring Harbor Molecular Case Studies|July 29, 2018
In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposisDaniel C Koboldt, Rama D Kastury, Megan A Waldrop, et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|October 10, 2014
The Mount Sinai clinical pathway for the management of pheochromocytomaSandi-Jo Galati, Meena Said, Rebekah Gospin, et al.
American Journal of Medical Genetics. Part A|January 25, 2013
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn C K Barber, Jill A Rosenfeld, Nicola Foulds, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patientsBeatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|March 21, 2009
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human heightKaren Buysse, William Reardon, Lakshmi Mehta, et al.
Cold Spring Harbor Molecular Case Studies|July 29, 2018
In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposisDaniel C Koboldt, Rama D Kastury, Megan A Waldrop, et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|October 10, 2014
The Mount Sinai clinical pathway for the management of pheochromocytomaSandi-Jo Galati, Meena Said, Rebekah Gospin, et al.
American Journal of Medical Genetics. Part A|January 25, 2013
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn C K Barber, Jill A Rosenfeld, Nicola Foulds, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patientsBeatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Pageof 5