Hasil Pencarian - Jayesh Sheth

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  1. 1
    Non-immune hydrops fetalis due to infantile sialidosis

    Non-immune hydrops fetalis due to infantile sialidosis oleh Inusha Panigrahi, Sudhanshu Grover, Mahesh Hiranandani, Jayesh Sheth

    Diterbitkan 2024-03-01
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  2. 2
    Case of a nodular ear

    Case of a nodular ear oleh Astuty Apurwa, Palak Jayesh Sheth, Nitin Nadkarni, Sharmila Patil

    Diterbitkan 2018-01-01
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  3. 3
    A case of Raine syndrome presenting with facial dysmorphy and review of literature

    A case of Raine syndrome presenting with facial dysmorphy and review of literature oleh Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi

    Diterbitkan 2018-05-01
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  4. 4
    Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

    Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases oleh Harsh Sheth, Jhanvi Shah, Aadhira Nair, Premal Naik, Jayesh Sheth

    Diterbitkan 2021-09-01
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  5. 5
    Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

    Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review oleh Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi, Frenny Sheth

    Diterbitkan 2019-03-01
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  6. 6
    An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

    An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report oleh Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth

    Diterbitkan 2022-02-01
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  7. 7
    The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

    The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome oleh Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth

    Diterbitkan 2022-06-01
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  8. 8
    Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

    Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome oleh Frenny Sheth, Naresh Gohel, Thomas Liehr, Olakanmi Akinde, Manisha Desai, Olawaleye Adeteye, Jayesh Sheth

    Diterbitkan 2012-01-01
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  9. 9
    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report oleh Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth

    Diterbitkan 2020-09-01
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  10. 10
    A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

    A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report oleh Frenny Sheth, Jhanvi Shah, Ketan Patel, Darshan Patel, Deepika Jain, Jayesh Sheth, Harsh Sheth

    Diterbitkan 2023-01-01
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  11. 11
    Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

    Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India oleh Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth

    Diterbitkan 2018-07-01
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  12. 12
    Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

    Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants oleh Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann

    Diterbitkan 2024-08-01
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  13. 13
    48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community

    48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community oleh Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi

    Diterbitkan 2024-04-01
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  14. 14
    A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

    A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature oleh Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth

    Diterbitkan 2018-10-01
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  15. 15
    Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

    Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15 oleh Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth

    Diterbitkan 2017-10-01
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  16. 16
    Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

    Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India oleh Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth

    Diterbitkan 2023-07-01
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  17. 17
    Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

    Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India oleh Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth

    Diterbitkan 2018-10-01
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  18. 18
    Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

    Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease oleh Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth

    Diterbitkan 2014-01-01
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  19. 19
    Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

    Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review oleh Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth

    Diterbitkan 2023-03-01
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  20. 20
    Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

    Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. oleh Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

    Diterbitkan 2012-01-01
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