Hasil Pencarian - Mohammed Faruq

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  1. 1
    Generation and characterization of human-derived induced pluripotent stem cell line (IGIBi010-A) from a patient with neurodegenerative disease phenotype carrying mutation in SQSTM1/p62 gene

    Generation and characterization of human-derived induced pluripotent stem cell line (IGIBi010-A) from a patient with neurodegenerative disease phenotype carrying mutation in SQSTM1... oleh Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq

    Diterbitkan 2024-10-01
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  2. 2
    Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich’s ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene

    Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich’s ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene oleh Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq

    Diterbitkan 2024-04-01
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  3. 3
    Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene

    Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first in... oleh Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq

    Diterbitkan 2024-02-01
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  4. 4
    The clinical diagnostic utility of array CGH in children with syndromic microcephaly

    The clinical diagnostic utility of array CGH in children with syndromic microcephaly oleh Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim

    Diterbitkan 2022-01-01
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  5. 5
    Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

    Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report oleh Manisha Goyal, Ashok Gupta, Rahul Gupta, Mohammed Faruq, Divya Shrivastava

    Diterbitkan 2023-01-01
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  6. 6
    A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family

    A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family oleh Shilpi Shukla, Harshad Chovatiya, Uzma Shamim, Mohammed Faruq, Soaham Desai

    Diterbitkan 2022-01-01
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  7. 7
    Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population

    Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population oleh Divya Goel, Varun Suroliya, Uzma Shamim, Aradhna Mathur, Mohammed Faruq

    Diterbitkan 2019-12-01
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  8. 8
    Manganism without Parkinsonism: Isolated Unilateral Upper Limb Tremor in a Welder

    Manganism without Parkinsonism: Isolated Unilateral Upper Limb Tremor in a Welder oleh Shweta Prasad, Uzma Shamim, Akanksha Minj, Mohammed Faruq, Pramod Kumar Pal

    Diterbitkan 2019-05-01
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  9. 9
    Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report

    Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report oleh Manisha Goyal, Sumit Mehndiratta, Mohammed Faruq, Manish Kumar Dwivedi, Seema Kapoor

    Diterbitkan 2014-11-01
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  10. 10
    Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)

    Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non... oleh Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq

    Diterbitkan 2024-06-01
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  11. 11
    Treating Hereditary Ataxias—Where Can We Help?

    Treating Hereditary Ataxias—Where Can We Help? oleh Ayush Agarwal, Divyani Garg, Mohammed Faruq, Roopa Rajan, Vinay Goyal, Achal Kumar Srivastava

    Diterbitkan 2019-10-01
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  12. 12
    Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders

    Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders oleh Varun Suroliya, Bharathram Uppili, Manish Kumar, Vineet Jha, Achal K. Srivastava, Mohammed Faruq

    Diterbitkan 2024-06-01
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  13. 13
    Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A)

    Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A) oleh Deepak Kumar, Ashaq Hussain, Achal K. Srivastava, Mitali Mukerji, Odity Mukherjee, Mohammed Faruq

    Diterbitkan 2018-08-01
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  14. 14
    Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

    Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient oleh Sana Zahra, Himanshi Kapoor, Istaq Ahmad, Asangla Kamai, Achal Kumar Srivastava, Mohammed Faruq

    Diterbitkan 2024-04-01
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  15. 15
    CRISPR/Cas9 technology in neurological disorders: An update for clinicians

    CRISPR/Cas9 technology in neurological disorders: An update for clinicians oleh Vishnu Swarup, Vikas Kumar, Mohammed Faruq, Himanshu N Singh, Inder Singh, Achal K Srivastava

    Diterbitkan 2020-01-01
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  16. 16
    Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A)

    Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS... oleh Istaq Ahmad, Divya Goel, Anindita Ghosh, Himanshi Kapoor, Deepak Kumar, Achal K. Srivastava, Mohammed Faruq

    Diterbitkan 2022-10-01
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  17. 17
    Clinical and genetic analysis of A father-son duo with monomelic amyotrophy: Case report

    Clinical and genetic analysis of A father-son duo with monomelic amyotrophy: Case report oleh Shiffali Khurana, Abhishek Vats, Mandaville Gourie-Devi, Ankkita Sharma, Sagar Verma, Mohammed Faruq, Uma Dhawan, Vibha Taneja

    Diterbitkan 2023-01-01
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  18. 18
    Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

    Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis oleh Manish Kumar, Shweta Sahni, Vivekanand A, Deepak Kumar, Neetu Kushwah, Divya Goel, Himanshi Kapoor, Achal K. Srivastava, Mohammed Faruq

    Diterbitkan 2024-05-01
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  19. 19
    Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene

    Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin... oleh Istaq Ahmad, Divya Goel, Anindita Ghosh, Himanshi Kapoor, Deepak Kumar, Keerthi Ramesh, Berty Ashley, K Deepika, Arun Shastry, Mohammed Faruq

    Diterbitkan 2022-10-01
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  20. 20
    Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP)

    Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP) oleh Manish Kumar, Saruchi Wadhwa, Nishu Tyagi, Istaq Ahmad, Somesh Kumar, Shakti Sagar, Sana Zahra, Asangla Kamai, Uzma Shamim, Seema Kapoor, Mohammed Faruq

    Diterbitkan 2021-05-01
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