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Prince Jacob

Showing results (1-10 of 11) with videos related to

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American Journal of Medical Genetics. Part A|November 2, 2020
Three M syndrome 2 in two Indian patientsPrince Jacob, Katta M Girisha
European Journal of Medical Genetics|May 14, 2022
Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profilesKatta M Girisha, Prince Jacob, Gandham SriLakshmi Bhavani, et al.
American Journal of Medical Genetics. Part A|February 15, 2024
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patientSivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, et al.
American Journal of Medical Genetics. Part A|October 25, 2023
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocationsSwati Singh, Prince Jacob, Siddaramappa J Patil, et al.
Clinical Dysmorphology|April 14, 2020
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian familiesPeriyasamy Radhakrishnan, Prince Jacob, Shalini S Nayak, et al.
Mitochondrion|June 6, 2026
TTC19 and FMNL2 gene variants in a pediatric case of mitochondrial disorder with renal tubular acidosisPrince Jacob, Sekar Deepha, Akhila Vasanth Hassan, et al.
American Journal of Medical Genetics. Part A|November 9, 2021
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patientsPrince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, et al.
Indian Journal of Pediatrics|January 24, 2023
Exome Sequencing in Monogenic Forms of RicketsPrince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, et al.
Human Mutation|September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|November 2, 2020
Three M syndrome 2 in two Indian patientsPrince Jacob, Katta M Girisha
European Journal of Medical Genetics|May 14, 2022
Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profilesKatta M Girisha, Prince Jacob, Gandham SriLakshmi Bhavani, et al.
American Journal of Medical Genetics. Part A|February 15, 2024
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patientSivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, et al.
American Journal of Medical Genetics. Part A|October 25, 2023
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocationsSwati Singh, Prince Jacob, Siddaramappa J Patil, et al.
Clinical Dysmorphology|April 14, 2020
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian familiesPeriyasamy Radhakrishnan, Prince Jacob, Shalini S Nayak, et al.
Mitochondrion|June 6, 2026
TTC19 and FMNL2 gene variants in a pediatric case of mitochondrial disorder with renal tubular acidosisPrince Jacob, Sekar Deepha, Akhila Vasanth Hassan, et al.
American Journal of Medical Genetics. Part A|November 9, 2021
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patientsPrince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, et al.
Indian Journal of Pediatrics|January 24, 2023
Exome Sequencing in Monogenic Forms of RicketsPrince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, et al.
Human Mutation|September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Pageof 2