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Jayesh Sheth

Showing results (31-40 of 80) with videos related to

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BMC Medical Genetics|July 6, 2018
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from IndiaJayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, et al.
Indian Pediatrics|December 30, 2015
Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic CenterJayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
Case Reports in Genetics|January 16, 2013
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndromeFrenny Sheth, Naresh Gohel, Thomas Liehr, et al.
Annals of Indian Academy of Neurology|August 8, 2022
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral TremorsJayesh Sheth, Ira Mohapatra, Gangotri Patra, et al.
BMC Neurology|January 16, 2023
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case reportFrenny Sheth, Jhanvi Shah, Ketan Patel, et al.
BMC Medical Genomics|September 25, 2020
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case reportHarsh Sheth, Sunil Trivedi, Thomas Liehr, et al.
The Lancet Regional Health. Southeast Asia|March 4, 2024
48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research communityJayesh Sheth, Harsh Sheth, Frenny Sheth, et al.
Molecular Genetics & Genomic Medicine|August 7, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variantsSigurd Dobloug, Ulrika Kjellström, Glenn Anderson, et al.
Fetal and Pediatric Pathology|January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndromeTomy Kochuvareed Mampilly, George Tomy Mampilly, Neeradha Chandramohan, et al.
Italian Journal of Pediatrics|October 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literatureFrenny Sheth, Thomas Liehr, Viraj Shah, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

Sort By:
Pageof 8
BMC Medical Genetics|July 6, 2018
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from IndiaJayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, et al.
Indian Pediatrics|December 30, 2015
Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic CenterJayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
Case Reports in Genetics|January 16, 2013
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndromeFrenny Sheth, Naresh Gohel, Thomas Liehr, et al.
Annals of Indian Academy of Neurology|August 8, 2022
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral TremorsJayesh Sheth, Ira Mohapatra, Gangotri Patra, et al.
BMC Neurology|January 16, 2023
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case reportFrenny Sheth, Jhanvi Shah, Ketan Patel, et al.
BMC Medical Genomics|September 25, 2020
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case reportHarsh Sheth, Sunil Trivedi, Thomas Liehr, et al.
The Lancet Regional Health. Southeast Asia|March 4, 2024
48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research communityJayesh Sheth, Harsh Sheth, Frenny Sheth, et al.
Molecular Genetics & Genomic Medicine|August 7, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variantsSigurd Dobloug, Ulrika Kjellström, Glenn Anderson, et al.
Fetal and Pediatric Pathology|January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndromeTomy Kochuvareed Mampilly, George Tomy Mampilly, Neeradha Chandramohan, et al.
Italian Journal of Pediatrics|October 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literatureFrenny Sheth, Thomas Liehr, Viraj Shah, et al.
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