Works matching AU Phadke, Shubha R.

Results: 128
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    Clinical and Mutation Spectra of Cockayne Syndrome in India.

    Published in:
    2021
    By:
    • Narayanan, Dhanya;
    • Tuteja, Moni;
    • McIntyre, Adam;
    • Hegele, Robert;
    • Calmels, Nadege;
    • Obringer, Cathy;
    • Laugel, Vincent;
    • Mandal, Kausik;
    • Phadke, Shubha;
    • Narayanan, Dhanya L;
    • McIntyre, Adam D;
    • Hegele, Robert A;
    • Phadke, Shubha R
    Publication type:
    journal article
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    Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

    Published in:
    Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263
    By:
    • Deshpande, Dipti;
    • Gupta, Shailesh Kumar;
    • Sarma, Asodu Sandeep;
    • Ranganath, Prajnya;
    • Jain S., Jamal Md Nurul;
    • Sheth, Jayesh;
    • Mistri, Mehul;
    • Gupta, Neerja;
    • Kabra, Madhulika;
    • Phadke, Shubha R.;
    • Girisha, Katta M.;
    • Dua Puri, Ratna;
    • Aggarwal, Shagun;
    • Datar, Chaitanya;
    • Mandal, Kausik;
    • Tilak, Preetha;
    • Muranjan, Mamta;
    • Bijarnia‐Mahay, Sunita;
    • Rama Devi A., Radha;
    • Tayade, Naresh B.
    Publication type:
    Article
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    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
    By:
    • Kausthubham, Neethukrishna;
    • Shukla, Anju;
    • Gupta, Neerja;
    • Bhavani, Gandham S.;
    • Kulshrestha, Samarth;
    • Das Bhowmik, Aneek;
    • Moirangthem, Amita;
    • Bijarnia‐Mahay, Sunita;
    • Kabra, Madhulika;
    • Puri, Ratna D.;
    • Mandal, Kausik;
    • Verma, Ishwar C.;
    • Bielas, Stephanie L.;
    • Phadke, Shubha R.;
    • Dalal, Ashwin;
    • Girisha, Katta M.
    Publication type:
    Article
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    Vici Syndrome with a Novel Mutation in EPG5.

    Published in:
    Indian Pediatrics, 2019, v. 56, n. 7, p. 603, doi. 10.1007/s13312-019-1561-z
    By:
    • Moirangthem, Amita;
    • Mandal, Kausik;
    • Ghosh, Apurba;
    • Phadke, Shubha R.
    Publication type:
    Article
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    Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

    Published in:
    Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
    By:
    • Puri, Ratna Dua;
    • Kapoor, Seema;
    • Kishnani, Priya S.;
    • Dalal, Ashwin;
    • Gupta, Neerja;
    • Muranjan, Mamta;
    • Phadke, Shubha R.;
    • Sachdeva, Anupam;
    • Verma, Ishwar C.;
    • Mistry, Pramod K.;
    • Gaucher Disease Task Force
    Publication type:
    Article
    16

    CVS and porencephaly.

    Published in:
    1993
    By:
    • Sharma, Anita K.;
    • Phadke, Shubha R.;
    • Sharma, A K;
    • Phadke, S R
    Publication type:
    Case Study
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    Perspectives on the future of dysmorphology.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
    By:
    • Solomon, Benjamin D.;
    • Adam, Margaret P.;
    • Fong, Chin‐To;
    • Girisha, Katta M.;
    • Hall, Judith G.;
    • Hurst, Anna C. E.;
    • Krawitz, Peter M.;
    • Moosa, Shahida;
    • Phadke, Shubha R.;
    • Tekendo‐Ngongang, Cedrik;
    • Wenger, Tara L.
    Publication type:
    Article
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    Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566
    By:
    • Jacob, Prince;
    • Bhavani, Gandham Sri Lakshmi;
    • Shah, Hitesh;
    • Galada, Chelna;
    • Nampoothiri, Sheela;
    • Kamath, Nutan;
    • Phadke, Shubha R.;
    • Muranjan, Mamta;
    • Datar, Chaitanya A.;
    • Shukla, Anju;
    • Girisha, Katta M.
    Publication type:
    Article
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    Renpenning syndrome in an Indian patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 293, doi. 10.1002/ajmg.a.61457
    By:
    • Masih, Suzena;
    • Moirangthem, Amita;
    • Phadke, Shubha R.
    Publication type:
    Article
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    Cover Image, Volume 173A, Number 3, March 2017.

    Published in:
    2017
    By:
    • Salian, Smrithi;
    • Cho, Tae‐Joon;
    • Phadke, Shubha R.;
    • Gowrishankar, Kalpana;
    • Bhavani, Gandham SriLakshmi;
    • Shukla, Anju;
    • Jagadeesh, Sujatha;
    • Kim, Ok‐Hwa;
    • Nishimura, Gen;
    • Girisha, Katta M.
    Publication type:
    Other
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    Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 410, doi. 10.1002/ajmg.a.37447
    By:
    • Bhavani, Gandham SriLakshmi;
    • Shah, Hitesh;
    • Shukla, Anju;
    • Gupta, Neerja;
    • Gowrishankar, Kalpana;
    • Rao, Anand P.;
    • Kabra, Madhulika;
    • Agarwal, Meenal;
    • Ranganath, Prajnya;
    • Ekbote, Alka V.;
    • Phadke, Shubha R.;
    • Kamath, Asha;
    • Dalal, Ashwin;
    • Girisha, Katta Mohan
    Publication type:
    Article
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    Novel and recurrent mutations in WISP3 and an atypical phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164
    By:
    • Bhavani, Gandham SriLakshmi;
    • Shah, Hitesh;
    • Dalal, Ashwin B.;
    • Shukla, Anju;
    • Danda, Sumita;
    • Aggarwal, Shagun;
    • Phadke, Shubha R.;
    • Gupta, Neerja;
    • Kabra, Madhulika;
    • Gowrishankar, Kalpana;
    • Gupta, Anju;
    • Bhat, Meenakshi;
    • Puri, Ratna D.;
    • Bijarnia‐Mahay, Sunita;
    • Nampoothiri, Sheela;
    • Mohanasundaram, Kavitha M.;
    • Rajeswari, S.;
    • Kulkarni, Akhil M.;
    • Kulkarni, Muralidhar L.;
    • Ranganath, Prajnya
    Publication type:
    Article
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    GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735
    By:
    • Bidchol, Abdul Mueed;
    • Dalal, Ashwin;
    • Shah, Hitesh;
    • S, Suryanarayana;
    • Nampoothiri, Sheela;
    • Kabra, Madhulika;
    • Gupta, Neerja;
    • Danda, Sumita;
    • Gowrishankar, Kalpana;
    • Phadke, Shubha R.;
    • Kapoor, Seema;
    • Kamate, Mahesh;
    • Verma, I.C.;
    • Puri, Ratna Dua;
    • Sankar, V.H.;
    • Devi, A. Radha Rama;
    • Patil, S.J.;
    • Ranganath, Prajnya;
    • Jain, S. Jamal Md Nurul;
    • Agarwal, Meenal
    Publication type:
    Article
    45

    Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2857, doi. 10.1002/ajmg.a.36702
    By:
    • Patil, Siddaramappa J.;
    • Rai, Gaurava Kumar;
    • Bhat, Venkatraman;
    • Ramesh, Vakkalagadda A.;
    • Nagarajaram, H.A.;
    • Matalia, Jyoti;
    • Phadke, Shubha R.
    Publication type:
    Article
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