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Frenny Sheth

Showing results (21-30 of 67) with videos related to

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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.
Leukemia Research|December 27, 2016
Characterization of two novel FANCG mutations in Indian Fanconi anemia patientsAvani Solanki, C Kumar Selvaa, Frenny Sheth, 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.
Journal of Assisted Reproduction and Genetics|November 14, 2024
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature reviewFrenny Sheth, Jhanvi Shah, Thomas Liehr, et al.
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.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin Shah, 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 Cytogenetics|July 3, 2013
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qterFrenny Sheth, Joris Andrieux, Stuti Tewari, et al.
Pageof 7

Showing results (21-30 of 67) with videos related to

Sort By:
Pageof 7
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.
Leukemia Research|December 27, 2016
Characterization of two novel FANCG mutations in Indian Fanconi anemia patientsAvani Solanki, C Kumar Selvaa, Frenny Sheth, 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.
Journal of Assisted Reproduction and Genetics|November 14, 2024
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature reviewFrenny Sheth, Jhanvi Shah, Thomas Liehr, et al.
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.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin Shah, 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 Cytogenetics|July 3, 2013
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qterFrenny Sheth, Joris Andrieux, Stuti Tewari, et al.
Pageof 7