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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 fetus
Shagun 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 marker
Usha 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 dysgenesis
Aneek 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 literature
Ashish 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 classification
Prasanna 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 diagnosis
Shagun Aggarwal, Anjana Kar, Philip Bland, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2012
Confirmation of the Zechi-Ceide syndrome
Siddaramappa 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 dystrophy
Prashant 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 polydactyly
Anjana 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 management
Mandakini Pradhan, Ashwin Dalal, Aditya Kapoor, et al.
Page
of 13
Search research articles
Search
Showing results (21-30 of 123) with videos related to
Sort By:
Page
of 13
European Journal of Medical Genetics
|
March 5, 2018
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
Shagun 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 marker
Usha 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 dysgenesis
Aneek 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 literature
Ashish 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 classification
Prasanna 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 diagnosis
Shagun Aggarwal, Anjana Kar, Philip Bland, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2012
Confirmation of the Zechi-Ceide syndrome
Siddaramappa 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 dystrophy
Prashant 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 polydactyly
Anjana 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 management
Mandakini Pradhan, Ashwin Dalal, Aditya Kapoor, et al.
Page
of 13