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

Shagun Aggarwal

Showing results (31-40 of 71) with videos related to

Pageof 8
Sort By:
Prenatal Diagnosis|November 21, 2022
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13Neelam Saini, Venkatapuram Vijayasree, Eshwar Chandra Nandury, et al.
Current Pharmaceutical Design|October 18, 2024
PARP Pioneers: Using BRCA1/2 Mutation-targeted Inhibition to Revolutionize Breast Cancer TreatmentNavneet Sharma, Akash Bhati, Shagun Aggarwal, et al.
Journal of Orthopaedic Case Reports|June 15, 2016
Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literatureMaheshwar Lakkireddyl Shagun Aggarwal, Vijaykrishna Chilakamarri, Vasundhara S Chennuri, et al.
The Indian Journal of Medical Research|October 9, 2012
Aetiologic spectrum of mental retardation & developmental delay in IndiaShagun Aggarwal, Vijay Raju Bogula, Kausik Mandal, et al.
Indian Journal of Pediatrics|June 25, 2015
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy PatientAneek Das Bhowmik, Ashwin B Dalal, Divya Matta, et al.
Journal of Human Genetics|November 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphismVenugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, et al.
Molecular Vision|June 3, 2011
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridiaShagun Aggarwal, Worapoj Jinda, Chanin Limwongse, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.
European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
American Journal of Medical Genetics. Part A|March 17, 2022
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrumGayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, et al.
Pageof 8

Showing results (31-40 of 71) with videos related to

Sort By:
Pageof 8
Prenatal Diagnosis|November 21, 2022
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13Neelam Saini, Venkatapuram Vijayasree, Eshwar Chandra Nandury, et al.
Current Pharmaceutical Design|October 18, 2024
PARP Pioneers: Using BRCA1/2 Mutation-targeted Inhibition to Revolutionize Breast Cancer TreatmentNavneet Sharma, Akash Bhati, Shagun Aggarwal, et al.
Journal of Orthopaedic Case Reports|June 15, 2016
Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literatureMaheshwar Lakkireddyl Shagun Aggarwal, Vijaykrishna Chilakamarri, Vasundhara S Chennuri, et al.
The Indian Journal of Medical Research|October 9, 2012
Aetiologic spectrum of mental retardation & developmental delay in IndiaShagun Aggarwal, Vijay Raju Bogula, Kausik Mandal, et al.
Indian Journal of Pediatrics|June 25, 2015
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy PatientAneek Das Bhowmik, Ashwin B Dalal, Divya Matta, et al.
Journal of Human Genetics|November 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphismVenugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, et al.
Molecular Vision|June 3, 2011
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridiaShagun Aggarwal, Worapoj Jinda, Chanin Limwongse, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.
European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
American Journal of Medical Genetics. Part A|March 17, 2022
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrumGayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, et al.
Pageof 8