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Ashwin Dalal

Showing results (11-20 of 123) with videos related to

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American Journal of Medical Genetics. Part A|March 26, 2018
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotypeKarthik Tallapaka, Vineeth Venugopal, Ashwin Dalal, et al.
BMJ Case Reports|November 29, 2012
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick diseaseAradhana Aneja, Aditi Sharma, Ashwin Dalal, et al.
Clinical Dysmorphology|September 8, 2006
Handless, footless fetusShubha R Phadke, K M Girisha, Ashwin Dalal
Indian Journal of Pediatrics|June 30, 2011
Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experienceRavindra Kumar, Inusha Panigrahi, Ashwin Dalal, et al.
Case Reports in Genetics|December 1, 2012
Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrheaUsha R Dutta, Vijaya Kumar Pidugu, Ashwin Dalal
Cytoskeleton (Hoboken, N.J.)|April 18, 2025
CEP72 Emerges as a Key Centriolar Satellite Protein in Health and DiseaseShweta Tyagi, Aditi Arora, Prajnya Ranganath, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineationAneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin Dalal
Fertility and Sterility|November 11, 2006
Fertility in men with Down syndrome: a case reportMandakini Pradhan, Ashwin Dalal, Faisal Khan, et al.
Indian Journal of Pediatrics|October 7, 2011
Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counselingSiddram J Patil, Rajitha Ponnala, Sejal Shah, et al.
Obesity Research & Clinical Practice|September 26, 2016
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesityAneek Das Bhowmik, Neerja Gupta, Ashwin Dalal, et al.
Pageof 13

Showing results (11-20 of 123) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|March 26, 2018
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotypeKarthik Tallapaka, Vineeth Venugopal, Ashwin Dalal, et al.
BMJ Case Reports|November 29, 2012
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick diseaseAradhana Aneja, Aditi Sharma, Ashwin Dalal, et al.
Clinical Dysmorphology|September 8, 2006
Handless, footless fetusShubha R Phadke, K M Girisha, Ashwin Dalal
Indian Journal of Pediatrics|June 30, 2011
Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experienceRavindra Kumar, Inusha Panigrahi, Ashwin Dalal, et al.
Case Reports in Genetics|December 1, 2012
Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrheaUsha R Dutta, Vijaya Kumar Pidugu, Ashwin Dalal
Cytoskeleton (Hoboken, N.J.)|April 18, 2025
CEP72 Emerges as a Key Centriolar Satellite Protein in Health and DiseaseShweta Tyagi, Aditi Arora, Prajnya Ranganath, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineationAneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin Dalal
Fertility and Sterility|November 11, 2006
Fertility in men with Down syndrome: a case reportMandakini Pradhan, Ashwin Dalal, Faisal Khan, et al.
Indian Journal of Pediatrics|October 7, 2011
Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counselingSiddram J Patil, Rajitha Ponnala, Sejal Shah, et al.
Obesity Research & Clinical Practice|September 26, 2016
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesityAneek Das Bhowmik, Neerja Gupta, Ashwin Dalal, et al.
Pageof 13