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

Swati Naik

Showing results (11-20 of 92) with videos related to

Pageof 10
Sort By:
Clinical Dysmorphology|February 1, 2022
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome SequencingHelen McDermott, Vidya Garikapati, Júlia Baptista, et al.
Clinical Dysmorphology|November 6, 2019
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth diseaseCharlotte A Sherlaw-Sturrock, Geraldine Cassidy, Kate Glover, et al.
Pediatric Neurology|October 18, 2011
Early-onset cerebellar atrophy associated with mutation in the CACNA1A geneSwati Naik, Keith Pohl, Mohsin Malik, et al.
European Journal of Medical Genetics|May 20, 2022
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2Charlotte Sherlaw-Sturrock, Thomas Austin, Julia Baptista, et al.
Molecular Syndromology|October 30, 2023
<i>VAMP2</i> Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of DisordersDanielle Bogue, Gavin Ryan, Evangeline Wassmer, et al.
Journal of the Indian Medical Association|October 12, 2004
Boutonneuse fever in a child: a case report and overviewSanjeev R Ahuja, Sunil Karande, Swati Naik, et al.
Blood Advances|July 3, 2025
Age-Adjusted Dosing of Fludarabine for Lymphodepletion in CAR T-cell Therapy: A Clinical Trial Simulation StudyJohn C Panetta, Aimee C Talleur, Swati Naik, et al.
Molecular Syndromology|April 14, 2022
Xq21.1q21.31 Duplication in Two Male SiblingsCharlotte Ann Sherlaw-Sturrock, Sarah Graham, Anita Morgan, et al.
European Journal of Medical Genetics|June 9, 2023
Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UKHelen McDermott, Jennifer Simmonds, Manigandan Thyagarajan, et al.
European Journal of Medical Genetics|July 16, 2022
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluationHelen McDermott, Charlotte Sherlaw-Sturrock, Julia Baptista, et al.
Pageof 10

Showing results (11-20 of 92) with videos related to

Sort By:
Pageof 10
Clinical Dysmorphology|February 1, 2022
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome SequencingHelen McDermott, Vidya Garikapati, Júlia Baptista, et al.
Clinical Dysmorphology|November 6, 2019
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth diseaseCharlotte A Sherlaw-Sturrock, Geraldine Cassidy, Kate Glover, et al.
Pediatric Neurology|October 18, 2011
Early-onset cerebellar atrophy associated with mutation in the CACNA1A geneSwati Naik, Keith Pohl, Mohsin Malik, et al.
European Journal of Medical Genetics|May 20, 2022
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2Charlotte Sherlaw-Sturrock, Thomas Austin, Julia Baptista, et al.
Molecular Syndromology|October 30, 2023
<i>VAMP2</i> Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of DisordersDanielle Bogue, Gavin Ryan, Evangeline Wassmer, et al.
Journal of the Indian Medical Association|October 12, 2004
Boutonneuse fever in a child: a case report and overviewSanjeev R Ahuja, Sunil Karande, Swati Naik, et al.
Blood Advances|July 3, 2025
Age-Adjusted Dosing of Fludarabine for Lymphodepletion in CAR T-cell Therapy: A Clinical Trial Simulation StudyJohn C Panetta, Aimee C Talleur, Swati Naik, et al.
Molecular Syndromology|April 14, 2022
Xq21.1q21.31 Duplication in Two Male SiblingsCharlotte Ann Sherlaw-Sturrock, Sarah Graham, Anita Morgan, et al.
European Journal of Medical Genetics|June 9, 2023
Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UKHelen McDermott, Jennifer Simmonds, Manigandan Thyagarajan, et al.
European Journal of Medical Genetics|July 16, 2022
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluationHelen McDermott, Charlotte Sherlaw-Sturrock, Julia Baptista, et al.
Pageof 10