المؤلفون: Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f

المؤلفون: Pratul Kumar Jain, Shashank Jayappa, Thiagarajan Sairam, Anupam Mittal, Sayan Paul, Vinay J Rao, Harshil Chittora, Deepak K Kashyap, Dasaradhi Palakodeti, Kumarasamy Thangaraj, Jayaprakash Shenthar, Rakesh Koranchery, Ranjith Rajendran, Haghighi Alireza, Kurukkanparampil Sreedharan Mohanan, Andiappan Rathinavel, Perundurai S Dhandapany

المصدر: Journal of Medical Genetics. 59:984-992

مصطلحات موضوعية: Heterozygote, Ribosomal Protein S6 Kinases, Mutation, Genetics, Humans, Ribosomal Protein S6 Kinases, 70-kDa, Exome, Cardiomyopathy, Hypertrophic, Cardiomyopathies, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f5b134b1353ef5cf08e1ef2dba32e5
https://doi.org/10.1136/jmedgenet-2021-107866

المؤلفون: Isha Rana, Sunny Kataria, Tuan Lin Tan, Edries Yousaf Hajam, Deepak Kumar Kashyap, Dyuti Saha, Johan Ajnabi, Sayan Paul, Shashank Jayappa, Akhil S.H.P. Ananthan, Pankaj Kumar, Rania F. Zaarour, J. Haarshaadri, Gaurav Kansagara, Abrar Rizvi, Ravindra K. Zirmire, Krithika Badarinath, Sneha Uday Khedkar, Yogesh Chandra, Rekha Samuel, Renu George, Debashish Danda, Paul Mazhuvanchary Jacob, Rakesh Dey, Perundurai S. Dhandapany, You-Wen He, John Varga, Shyni Varghese, Colin Jamora

المصدر: Journal of Investigative Dermatology. 143:699-710.e10

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12cd8c8e887f3a887f7cf2e49eb74388
https://doi.org/10.1016/j.jid.2022.10.011

المؤلفون: Robert, Lesurf, Abdelrahman, Said, Oyediran, Akinrinade, Jeroen, Breckpot, Kathleen, Delfosse, Ting, Liu, Roderick, Yao, Gabrielle, Persad, Fintan, McKenna, Ramil R, Noche, Winona, Oliveros, Kaia, Mattioli, Shreya, Shah, Anastasia, Miron, Qian, Yang, Guoliang, Meng, Michelle Chan Seng, Yue, Wilson W L, Sung, Bhooma, Thiruvahindrapuram, Jane, Lougheed, Erwin, Oechslin, Tapas, Mondal, Lynn, Bergin, John, Smythe, Shashank, Jayappa, Vinay J, Rao, Jayaprakash, Shenthar, Perundurai S, Dhandapany, Christopher, Semsarian, Robert G, Weintraub, Richard D, Bagnall, Jodie, Ingles, Marta, Melé, Philipp G, Maass, James, Ellis, Stephen W, Scherer, M, Zarowiecki

المساهمون: Barcelona Supercomputing Center

المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)

مصطلحات موضوعية: Genetics & Heredity, RISK, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Science & Technology, Genetic testing, Cardiomyopathy, FUKUTIN GENE, MEDICAL GENETICS, ASSOCIATION, AMERICAN-COLLEGE, DILATED CARDIOMYOPATHY, Paediatric research, CLASSIFICATION, Gene regulation, carbohydrates (lipids), JOINT CONSENSUS RECOMMENDATION, Genòmica, RESOURCE, Genetics, TRANSCRIPTION FACTOR, Gene expression, Life Sciences & Biomedicine, Molecular Biology, Genetics (clinical), Genetic diseases

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c17280981c333134a3fa06d7ec9729
https://hdl.handle.net/2117/364726

المؤلفون: Isha Rana, Sunny Kataria, Tuan Lin Tan, Edries Yousaf Hajam, Deepak Kumar Kashyap, Dyuti Saha, Johan Ajnabi, Sayan Paul, Shashank Jayappa, Akhil SHP Ananthan, Pankaj Kumar, Rania F. Zaarour, Haarshaadri J, Rekha Samuel, Renu George, Debashish Danda, Paul Mazhuvanchary Jacob, Rakesh Dey, Perundurai S Dhandapany, You-Wen He, John Varga, Shyni Varghese, Colin Jamora

مصطلحات موضوعية: integumentary system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1d7cab41eb66ec70b5ce9580339f40ae
https://doi.org/10.1101/2022.01.26.477822

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