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American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.American Journal of Medical Genetics. Part A|March 17, 2022
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrumGayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, 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.Respiratory Care|June 15, 2017
Effect of Interval Between Actuations of Albuterol Hydrofluoroalkane Pressurized Metered-Dose Inhalers on Their Aerosol CharacteristicsAriel Berlinski, David PenningtonEuropean 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.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.Pageof 8