Works matching AU Shamim, Uzma

Results: 33
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    Respiratory Co-Infections: Modulators of SARS-CoV-2 Patients' Clinical Sub-Phenotype.

    Published in:
    Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.653399
    By:
    • Mehta, Priyanka;
    • Sahni, Shweta;
    • Siddiqui, Samreen;
    • Mishra, Neha;
    • Sharma, Pooja;
    • Sharma, Sachin;
    • Tyagi, Akansha;
    • Chattopadhyay, Partha;
    • Vivekanand, A;
    • Devi, Priti;
    • Khan, Azka;
    • Waghdhare, Swati;
    • Budhiraja, Sandeep;
    • Uppili, Bharathram;
    • Maurya, Ranjeet;
    • Nangia, Vivek;
    • Shamim, Uzma;
    • Hazarika, Pranjal P.;
    • Wadhwa, Saruchi;
    • Tyagi, Nishu
    Publication type:
    Article
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    Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1833, doi. 10.1002/humu.24102
    By:
    • Narang, Ankita;
    • Uppilli, Bharathram;
    • Vivekanand, Asokachandran;
    • Naushin, Salwa;
    • Yadav, Arti;
    • Singhal, Khushboo;
    • Shamim, Uzma;
    • Sharma, Pooja;
    • Zahra, Sana;
    • Mathur, Aradhana;
    • Seth, Malika;
    • Parveen, Shaista;
    • Vats, Archana;
    • Hillman, Sara;
    • Dolma, Padma;
    • Varma, Binuja;
    • Jain, Vandana;
    • Prasher, Bhavana;
    • Sengupta, Shantanu;
    • Mukerji, Mitali
    Publication type:
    Article
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    Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
    By:
    • Siddiqui, Shahyan;
    • Polavarapu, Kiran;
    • Bardhan, Mainak;
    • Preethish-Kumar, Veeramani;
    • Joshi, Aditi;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Raju, Sanita;
    • Chawla, Tanushree;
    • Leena, Shingavi;
    • Mathur, Aradhana;
    • Nayak, Sushmita;
    • Mohan, Dhaarini;
    • Shamim, Uzma;
    • Prasad, Chandrajit;
    • Lochmüller, Hanns;
    • Faruq, Mohammed;
    • Nalini, Atchayaram
    Publication type:
    Article
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    Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

    Published in:
    Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1329, doi. 10.1177/10556656211052781
    By:
    • Sood, Anubhuti;
    • Shamim, Uzma;
    • Kharbanda, Om P.;
    • Kabra, Madhulika;
    • Gupta, Neerja;
    • Mathur, Aradhana;
    • Joshi, Aditi;
    • Parveen, Shaista;
    • Zahra, Sana;
    • Sharma, Pooja;
    • Seth, Malika;
    • Khan, Afreen;
    • Faruq, Mohammed;
    • Mishra, Deepika
    Publication type:
    Article
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    Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

    Published in:
    Advanced Genetics, 2022, v. 3, n. 2, p. 1, doi. 10.1002/ggn2.202100078
    By:
    • Sharma, Pooja;
    • Sonakar, Akhilesh Kumar;
    • Tyagi, Nishu;
    • Suroliya, Varun;
    • Kumar, Manish;
    • Kutum, Rintu;
    • Asokchandran, Vivekananda;
    • Ambawat, Sakshi;
    • Shamim, Uzma;
    • Anand, Avni;
    • Ahmad, Ishtaq;
    • Shakya, Sunil;
    • Uppili, Bharathram;
    • Mathur, Aradhana;
    • Parveen, Shaista;
    • Jain, Shweta;
    • Singh, Jyotsna;
    • Seth, Malika;
    • Zahra, Sana;
    • Joshi, Aditi
    Publication type:
    Article
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    Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

    Published in:
    Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 886, doi. 10.1002/mdc3.13516
    By:
    • Garg, Divyani;
    • Yoganathan, Sangeetha;
    • Shamim, Uzma;
    • Mankad, Kshitij;
    • Gulati, Parveen;
    • Bonifati, Vincenzo;
    • Botre, Abhijeet;
    • Kalane, Umesh;
    • Saini, Arushi Gahlot;
    • Sankhyan, Naveen;
    • Srivastava, Kavita;
    • Gowda, Vykuntaraju K.;
    • Juneja, Monica;
    • Kamate, Mahesh;
    • Padmanabha, Hansashree;
    • Panigrahi, Debasis;
    • Pachapure, Shaila;
    • Udani, Vrajesh;
    • Kumar, Atin;
    • Pandey, Sanjay
    Publication type:
    Article
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    Genetics of 67 patients of suspected primary ciliary dyskinesia from India.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 650, doi. 10.1111/cge.14590
    By:
    • Jat, Kana Ram;
    • Faruq, Mohammed;
    • Jindal, Shishir;
    • Bari, Shreya;
    • Soni, Akshita;
    • Sharma, Pooja;
    • Mathews, Susi;
    • Shamim, Uzma;
    • Ahuja, Vanshika;
    • Uppilli, Bharathram;
    • Yadav, Subhash C.;
    • Lodha, Rakesh;
    • Arava, Sudheer K.;
    • Kabra, Sushil K.
    Publication type:
    Article
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    A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

    Published in:
    Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
    By:
    • Polavarapu, Kiran;
    • Mathur, Aradhna;
    • Joshi, Aditi;
    • Nashi, Saraswati;
    • Preethish-Kumar, Veeramani;
    • Bardhan, Mainak;
    • Sharma, Pooja;
    • Parveen, Shaista;
    • Seth, Malika;
    • Vengalil, Seena;
    • Chawla, Tanushree;
    • Shingavi, Leena;
    • Shamim, Uzma;
    • Nayak, Sushmita;
    • Vivekanand, A.;
    • Töpf, Ana;
    • Roos, Andreas;
    • Horvath, Rita;
    • Lochmüller, Hanns;
    • Nandeesh, Bevinahalli
    Publication type:
    Article
    27

    An Indian child with Coats plus syndrome due to mutations in STN1.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2139, doi. 10.1002/ajmg.a.61737
    By:
    • Passi, Gouri Rao;
    • Shamim, Uzma;
    • Rathore, Surabhi;
    • Joshi, Aditi;
    • Mathur, Aradhana;
    • Parveen, Shaista;
    • Sharma, Pooja;
    • Crow, Yanick J.;
    • Faruq, Mohammed
    Publication type:
    Article
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    Human‐host transcriptomic analysis reveals unique early innate immune responses in different sub‐phenotypes of COVID‐19.

    Published in:
    Clinical & Translational Medicine, 2022, v. 12, n. 6, p. 1, doi. 10.1002/ctm2.856
    By:
    • Maurya, Ranjeet;
    • Shamim, Uzma;
    • Chattopadhyay, Partha;
    • Mehta, Priyanka;
    • Mishra, Pallavi;
    • Devi, Priti;
    • Swaminathan, Aparna;
    • Saifi, Sheeba;
    • Khare, Kriti;
    • Yadav, Aanchal;
    • Parveen, Shaista;
    • Sharma, Pooja;
    • A, Vivekanand;
    • Tyagi, Akansha;
    • Jha, Vinita;
    • Tarai, Bansidhar;
    • Jha, Sujeet;
    • Faruq, Mohd;
    • Budhiraja, Sandeep;
    • Pandey, Rajesh
    Publication type:
    Article
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