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Shagun Aggarwal

Showing results (41-50 of 71) with videos related to

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The Indian Journal of Medical Research|October 20, 2023
Identification of three novel mutations in <i>SLCO2A1</i> in Asian-Indians with PachydermoperiostosisDivya Pasumarthi, Priya Ranganath, Kausik Mandal, et al.
Reproductive Biomedicine Online|December 4, 2010
Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriagesShagun Aggarwal, Farah Parveen, Rehan Mujeeb Faridi, et al.
European Journal of Medical Genetics|March 1, 2012
Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlationShagun Aggarwal, Jaswinder Singh Maras, Seema Alam, et al.
Indian Pediatrics|December 30, 2019
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian ChildrenDhanya Lakshmi Narayanan, Prajnya Ranganath, Shagun Aggarwal, et al.
American Journal of Medical Genetics. Part A|July 15, 2015
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotypeShagun Aggarwal, S Jamal Mohamed Nurul Jain, Aneek D Bhowmik, et al.
Fetal and Pediatric Pathology|January 17, 2018
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy SeriesShagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, et al.
Neuromuscular Disorders : NMD|August 14, 2016
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencingAneek Das Bhowmik, Ashwin Dalal, Divya Matta, et al.
Journal of Child Neurology|January 26, 2013
A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemiaJennifer M Love, Debra Prosser, Donald R Love, et al.
Gene|April 2, 2014
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationShagun Aggarwal, Maria Francisca Coutinho, Ashwin B Dalal, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndromeNeelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
The Indian Journal of Medical Research|October 20, 2023
Identification of three novel mutations in <i>SLCO2A1</i> in Asian-Indians with PachydermoperiostosisDivya Pasumarthi, Priya Ranganath, Kausik Mandal, et al.
Reproductive Biomedicine Online|December 4, 2010
Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriagesShagun Aggarwal, Farah Parveen, Rehan Mujeeb Faridi, et al.
European Journal of Medical Genetics|March 1, 2012
Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlationShagun Aggarwal, Jaswinder Singh Maras, Seema Alam, et al.
Indian Pediatrics|December 30, 2019
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian ChildrenDhanya Lakshmi Narayanan, Prajnya Ranganath, Shagun Aggarwal, et al.
American Journal of Medical Genetics. Part A|July 15, 2015
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotypeShagun Aggarwal, S Jamal Mohamed Nurul Jain, Aneek D Bhowmik, et al.
Fetal and Pediatric Pathology|January 17, 2018
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy SeriesShagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, et al.
Neuromuscular Disorders : NMD|August 14, 2016
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencingAneek Das Bhowmik, Ashwin Dalal, Divya Matta, et al.
Journal of Child Neurology|January 26, 2013
A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemiaJennifer M Love, Debra Prosser, Donald R Love, et al.
Gene|April 2, 2014
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationShagun Aggarwal, Maria Francisca Coutinho, Ashwin B Dalal, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndromeNeelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, et al.
Pageof 8