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Ratna Puri

Showing results (11-20 of 22) with videos related to

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Pediatric Blood & Cancer|March 21, 2013
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrestVikas Dua, Satya P Yadav, Vijay Kumar, et al.
Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|May 26, 2018
Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent <i>in situ</i> hybridizationVenkataswamy Eswarachari, Priya Kadam, Sireesha Movva, et al.
Molecular Genetics and Metabolism|March 2, 2010
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNAMurali D Bashyam, Ajay K Chaudhary, E Chandrakanth Reddy, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
Journal of Obstetrics and Gynaecology of India|November 13, 2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in IndiaIshwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, et al.
Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Pediatric Blood & Cancer|March 21, 2013
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrestVikas Dua, Satya P Yadav, Vijay Kumar, et al.
Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|May 26, 2018
Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent <i>in situ</i> hybridizationVenkataswamy Eswarachari, Priya Kadam, Sireesha Movva, et al.
Molecular Genetics and Metabolism|March 2, 2010
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNAMurali D Bashyam, Ajay K Chaudhary, E Chandrakanth Reddy, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
Journal of Obstetrics and Gynaecology of India|November 13, 2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in IndiaIshwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, et al.
Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 3