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Ashwin Dalal

Showing results (51-60 of 123) with videos related to

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European Journal of Medical Genetics|April 26, 2023
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?Asodu Sandeep Sarma, Rohan Peter Mathew, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
Familial choreoathetosis due to novel heterozygous mutation in PDE10ADhanya L Narayanan, Dipti Deshpande, Aneek Das Bhowmik, 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.
Current Genomics|July 14, 2020
Repurposing Pathogenic Variants of <i>DMD</i> Gene and its Isoforms for DMD Exon Skipping InterventionRahul Tyagi, Sumit Kumar, Ashwin Dalal, et al.
Clinical Genetics|June 11, 2024
Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?T Pragna Lakshmi, Neelam Saini, Mehul A Shah, et al.
American Journal of Medical Genetics. Part A|April 2, 2024
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasiaSwati Singh, Hitesh Shah, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 geneSiddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, et al.
Gene|February 23, 2013
Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual developmentUsha R Dutta, Vijaya Kumar Pidugu, Ch Venkateshwar Goud, 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.
Pageof 13

Showing results (51-60 of 123) with videos related to

Sort By:
Pageof 13
European Journal of Medical Genetics|April 26, 2023
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?Asodu Sandeep Sarma, Rohan Peter Mathew, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
Familial choreoathetosis due to novel heterozygous mutation in PDE10ADhanya L Narayanan, Dipti Deshpande, Aneek Das Bhowmik, 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.
Current Genomics|July 14, 2020
Repurposing Pathogenic Variants of <i>DMD</i> Gene and its Isoforms for DMD Exon Skipping InterventionRahul Tyagi, Sumit Kumar, Ashwin Dalal, et al.
Clinical Genetics|June 11, 2024
Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?T Pragna Lakshmi, Neelam Saini, Mehul A Shah, et al.
American Journal of Medical Genetics. Part A|April 2, 2024
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasiaSwati Singh, Hitesh Shah, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 geneSiddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, et al.
Gene|February 23, 2013
Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual developmentUsha R Dutta, Vijaya Kumar Pidugu, Ch Venkateshwar Goud, 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.
Pageof 13