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

Gayatri Nerakh

Showing results (1-10 of 15) with videos related to

Pageof 2
Sort By:
Brain & Development|July 14, 2023
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndromeGayatri Nerakh, Madhavi Vasikarla
Indian Journal of Pediatrics|November 29, 2018
Alström Syndrome Presenting as Isolated Dilated CardiomyopathyGayatri Nerakh, Prajnya Ranganath
Journal of Pediatric Genetics|February 8, 2021
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation SpectrumGayatri Nerakh, Prajnya Ranganath, Sakthivel Murugan
Clinical Dysmorphology|July 14, 2025
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorderGayatri Nerakh, Rachana Rd, Sahitya Gurram
Clinical Dysmorphology|November 6, 2025
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomaliesGayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha
Clinical Dysmorphology|October 24, 2024
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndromeGayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni
European Journal of Medical Genetics|May 2, 2021
CEP135 associated primary microcephaly-A rare presentation in early second trimesterGayatri Nerakh, K Mounika, K Geeta, et al.
Annals of Indian Academy of Neurology|January 10, 2022
An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular DystrophyPriyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, et al.
Indian Journal of Pediatrics|June 7, 2021
Antenatal Indomethacin Use Altering the Initial Presentation of Type 4A Bartter SyndromePriyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, et al.
Neoreviews|December 31, 2021
A Floppy Infant with Facial DysmorphismPraneeth Kumar, Gayatri Nerakh, Priyanka Katam, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Brain & Development|July 14, 2023
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndromeGayatri Nerakh, Madhavi Vasikarla
Indian Journal of Pediatrics|November 29, 2018
Alström Syndrome Presenting as Isolated Dilated CardiomyopathyGayatri Nerakh, Prajnya Ranganath
Journal of Pediatric Genetics|February 8, 2021
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation SpectrumGayatri Nerakh, Prajnya Ranganath, Sakthivel Murugan
Clinical Dysmorphology|July 14, 2025
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorderGayatri Nerakh, Rachana Rd, Sahitya Gurram
Clinical Dysmorphology|November 6, 2025
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomaliesGayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha
Clinical Dysmorphology|October 24, 2024
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndromeGayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni
European Journal of Medical Genetics|May 2, 2021
CEP135 associated primary microcephaly-A rare presentation in early second trimesterGayatri Nerakh, K Mounika, K Geeta, et al.
Annals of Indian Academy of Neurology|January 10, 2022
An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular DystrophyPriyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, et al.
Indian Journal of Pediatrics|June 7, 2021
Antenatal Indomethacin Use Altering the Initial Presentation of Type 4A Bartter SyndromePriyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, et al.
Neoreviews|December 31, 2021
A Floppy Infant with Facial DysmorphismPraneeth Kumar, Gayatri Nerakh, Priyanka Katam, et al.
Pageof 2