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

Anju Shukla

Showing results (11-20 of 186) with videos related to

Pageof 19
Sort By:
Journal of Pediatric Genetics|August 15, 2018
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>Anju Shukla, Parneet Kaur, Katta M Girisha
BMJ Case Reports|June 4, 2021
Report of rapid diagnosis and precise management of <i>MMADHC-</i>related intracellular cobalamin defectVivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla
Journal of Human Genetics|June 16, 2017
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Katta M Girisha
BMJ Case Reports|May 15, 2016
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2Malavika Hebbar, Katta M Girisha, Anju Shukla
American Journal of Medical Genetics. Part A|October 12, 2020
Trichothiodystrophy type 4 in an Indian familyShruti Pande, Anju Shukla, Katta Mohan Girisha
Clinical Dysmorphology|August 30, 2023
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literatureShivani Mishra, Karthik Vijay Nair, Anju Shukla
Clinical Dysmorphology|November 24, 2020
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic faciesShivani Mishra, Katta Mohan Girisha, Anju Shukla
Ophthalmic Genetics|April 8, 2017
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2Puneeth H Somashekar, Anju Shukla, Katta M Girisha
Indian Pediatrics|February 2, 2015
Anomalies associated with single umbilical artery at perinatal autopsyShalini S Nayak, Anju Shukla, Katta M Girisha
The Application of Clinical Genetics|March 8, 2023
Genetic Links to Episodic Movement Disorders: Current InsightsDivyani Garg, Shekeeb Mohammad, Anju Shukla, et al.
Pageof 19

Showing results (11-20 of 186) with videos related to

Sort By:
Pageof 19
Journal of Pediatric Genetics|August 15, 2018
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>Anju Shukla, Parneet Kaur, Katta M Girisha
BMJ Case Reports|June 4, 2021
Report of rapid diagnosis and precise management of <i>MMADHC-</i>related intracellular cobalamin defectVivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla
Journal of Human Genetics|June 16, 2017
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Katta M Girisha
BMJ Case Reports|May 15, 2016
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2Malavika Hebbar, Katta M Girisha, Anju Shukla
American Journal of Medical Genetics. Part A|October 12, 2020
Trichothiodystrophy type 4 in an Indian familyShruti Pande, Anju Shukla, Katta Mohan Girisha
Clinical Dysmorphology|August 30, 2023
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literatureShivani Mishra, Karthik Vijay Nair, Anju Shukla
Clinical Dysmorphology|November 24, 2020
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic faciesShivani Mishra, Katta Mohan Girisha, Anju Shukla
Ophthalmic Genetics|April 8, 2017
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2Puneeth H Somashekar, Anju Shukla, Katta M Girisha
Indian Pediatrics|February 2, 2015
Anomalies associated with single umbilical artery at perinatal autopsyShalini S Nayak, Anju Shukla, Katta M Girisha
The Application of Clinical Genetics|March 8, 2023
Genetic Links to Episodic Movement Disorders: Current InsightsDivyani Garg, Shekeeb Mohammad, Anju Shukla, et al.
Pageof 19