يعرض 1 - 10 نتائج من 40 نتيجة بحث عن '"Gandham SriLakshmi Bhavani"', وقت الاستعلام: 1.50s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

    المؤلفون: Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

    المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)

    مصطلحات موضوعية: Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2056-7944

    URL الوصول: https://doaj.org/article/7fd8ea3e8a5a439794ea10065835754b

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  2. 2
    دورية أكاديمية
    Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

    المؤلفون: Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. Girisha, Shiro Ikegawa

    المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/39666f07f5524b20abbe44216deb698c

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  3. 3
    Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

    المؤلفون: Prajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, Hitesh Shah, Sandip Bartakke, Ashwin Dalal, Katta M Girisha, Gandham SriLakshmi Bhavani

    المصدر: Journal of Human Genetics. 68:287-290

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e318aa29d98116d92d012aa918019f66
    https://doi.org/10.1038/s10038-022-01104-2

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  4. 4
    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

    المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

    المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development

    المصدر: Nature genetics. Nature Publishing Group

    مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985
    https://doi.org/10.1038/s41588-022-01120-0

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  5. 5
    Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

    المؤلفون: Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit

    المصدر: Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, G S, Shukla, A, Altmüller, J, Nürnberg, P, Banka, S, Girisha, K M, Li, Y, Wollnik, B & Yigit, G 2023, ' Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly ', Human Genetics . https://doi.org/10.1007/s00439-023-02528-2

    مصطلحات موضوعية: Genetics, Technology Platforms, Genetics (clinical)

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f859d66c370c94ef7a8b3c7caccd2bb
    https://research.manchester.ac.uk/en/publications/ab156f9e-c48a-4dde-852a-fd81058f5e49

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  6. 6
    Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children

    المؤلفون: Swathi Sunil Rao, Gandham Srilakshmi Bhavani, Anil B. Jalan, Rathika D. Shenoy

    المصدر: Indian Journal of Pediatrics.

    مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b72c50a0fa483635c77dde7d1c79054
    https://doi.org/10.1007/s12098-023-04495-y

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  7. 7
    Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

    المؤلفون: Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Shalini S. Nayak, Hitesh Shah, Akash Ranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Debasish Kumar Ghosh

    المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869:166741

    مصطلحات موضوعية: Molecular Medicine, Molecular Biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8c90fecb3eecee28fe653cb1d1408537
    https://doi.org/10.1016/j.bbadis.2023.166741

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  8. 8
    Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

    المؤلفون: Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat

    المصدر: Journal of Medical Genetics. 60:204-211

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9020691abc9d65ebac0afd2e0289dd
    https://doi.org/10.1136/jmedgenet-2021-108098

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  9. 9
    Exome Sequencing in Monogenic Forms of Rickets

    المؤلفون: Prince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, Zheng Wang, Sankar V. Hariharan, Kishan Delampady, Ashwin Dalal, Nutan Kamath, Shiro Ikegawa, Rathika D. Shenoy, Koushik Handattu, Hitesh Shah, Katta M. Girisha

    المصدر: Indian Journal of Pediatrics.

    مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::efdd267ce0faadc15d0d2621e84dc53e
    https://doi.org/10.1007/s12098-022-04393-9

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  10. 10
    Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India

    المؤلفون: Hampapathalu A. Nagarajaram, Gandham SriLakshmi Bhavani, Prajnya Ranganath, Ashwin Dalal, Rekha Gupta, Sumita Danda, Aishwarya Gholse, Ajay K. Chaudhary, Murali D. Bashyam, Atanu Kumar Dutta, Hariharan V Sankar, Katta M. Girisha, Shubha Rao Phadke, Neerja Gupta

    المصدر: American Journal of Medical Genetics Part A. 188:788-805

    مصطلحات موضوعية: Furin, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Transition (genetics), Limb Deformities, Congenital, Genetic disorder, Ectodysplasins, Biology, medicine.disease, Pedigree, Exon, Ectodermal Dysplasia, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, biology.protein, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Global developmental delay, Transversion, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2be50c8020ca4566606a5daa9f6d1d
    https://doi.org/10.1002/ajmg.a.62579

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