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BMC Neurology
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January 16, 2023
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report
Frenny 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 report
Harsh Sheth, Sunil Trivedi, Thomas Liehr, et al.
Leukemia Research
|
December 27, 2016
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients
Avani Solanki, C Kumar Selvaa, Frenny Sheth, et al.
Indian Pediatrics
|
December 30, 2015
Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center
Jayesh 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 syndrome
Frenny 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 review
Frenny 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 India
Jayesh 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 syndrome
Harsh 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 community
Jayesh Sheth, Harsh Sheth, Frenny Sheth, et al.
Molecular Cytogenetics
|
July 3, 2013
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter
Frenny Sheth, Joris Andrieux, Stuti Tewari, et al.
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Search research articles
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Showing results (21-30 of 67) with videos related to
Sort By:
Page
of 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 report
Frenny 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 report
Harsh Sheth, Sunil Trivedi, Thomas Liehr, et al.
Leukemia Research
|
December 27, 2016
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients
Avani Solanki, C Kumar Selvaa, Frenny Sheth, et al.
Indian Pediatrics
|
December 30, 2015
Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center
Jayesh 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 syndrome
Frenny 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 review
Frenny 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 India
Jayesh 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 syndrome
Harsh 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 community
Jayesh Sheth, Harsh Sheth, Frenny Sheth, et al.
Molecular Cytogenetics
|
July 3, 2013
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter
Frenny Sheth, Joris Andrieux, Stuti Tewari, et al.
Page
of 7