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Ashwin Dalal

Showing results (21-30 of 123) with videos related to

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European Journal of Medical Genetics|March 5, 2018
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetusShagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, et al.
Gene|February 11, 2014
A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the markerUsha R Dutta, Subhash Vempally, Prajnya Ranganath, et al.
The Journal of Obstetrics and Gynaecology Research|July 31, 2018
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesisAneek Das Bhowmik, Ashwin Dalal, Ashwani Tandon, et al.
BMJ Case Reports|May 16, 2015
Hunter syndrome with late age of presentation: clinical description of a case and review of the literatureAshish Gupta, Anusha Uttarilli, Ashwin Dalal, et al.
European Journal of Medical Genetics|October 11, 2020
Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classificationPrasanna Latha Komaravalli, Vasantha Rani S, Ashwin Dalal, et al.
Gene|December 6, 2014
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosisShagun Aggarwal, Anjana Kar, Philip Bland, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Confirmation of the Zechi-Ceide syndromeSiddaramappa J Patil, Venkatraman Bhat, Ashwin Dalal, et al.
Indian Journal of Human Genetics|July 4, 2012
Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophyPrashant K Verma, Ashwin Dalal, Balraj Mittal, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactylyAnjana Kar, Shubha R Phadke, Aneek Das Bhowmik, et al.
Fetal Diagnosis and Therapy|October 16, 2007
Fetal left ventricular diverticulum presenting as dysrhythmia: diagnosis and managementMandakini Pradhan, Ashwin Dalal, Aditya Kapoor, et al.
Pageof 13

Showing results (21-30 of 123) with videos related to

Sort By:
Pageof 13
European Journal of Medical Genetics|March 5, 2018
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetusShagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, et al.
Gene|February 11, 2014
A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the markerUsha R Dutta, Subhash Vempally, Prajnya Ranganath, et al.
The Journal of Obstetrics and Gynaecology Research|July 31, 2018
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesisAneek Das Bhowmik, Ashwin Dalal, Ashwani Tandon, et al.
BMJ Case Reports|May 16, 2015
Hunter syndrome with late age of presentation: clinical description of a case and review of the literatureAshish Gupta, Anusha Uttarilli, Ashwin Dalal, et al.
European Journal of Medical Genetics|October 11, 2020
Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classificationPrasanna Latha Komaravalli, Vasantha Rani S, Ashwin Dalal, et al.
Gene|December 6, 2014
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosisShagun Aggarwal, Anjana Kar, Philip Bland, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Confirmation of the Zechi-Ceide syndromeSiddaramappa J Patil, Venkatraman Bhat, Ashwin Dalal, et al.
Indian Journal of Human Genetics|July 4, 2012
Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophyPrashant K Verma, Ashwin Dalal, Balraj Mittal, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactylyAnjana Kar, Shubha R Phadke, Aneek Das Bhowmik, et al.
Fetal Diagnosis and Therapy|October 16, 2007
Fetal left ventricular diverticulum presenting as dysrhythmia: diagnosis and managementMandakini Pradhan, Ashwin Dalal, Aditya Kapoor, et al.
Pageof 13