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1دورية أكاديمية
المؤلفون: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: L2HGDH, Mutation, Pakistan, L-2-hydroxyglutaric aciduria, Cerebellar ataxia, Epilepsy, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Masoud DEHGHAN TEZERJANI, Reza MAROOFIAN, Mohammad Yahya VAHIDI MEHRJARDI, Barry A. CHIOZA, Shiva ZAMANINEJAD, Seyed Mehdi KALANTAR, Mahmoud NORI-SHADKAM, Hamidreza GHADIMI, Emma L. BAPLE, Andrew H. CROSBY, Mohammadreza DEHGHANI
المصدر: Iranian Journal of Public Health, Vol 45, Iss 10, Pp 1359-1366 (2016)
مصطلحات موضوعية: OFD1, Oral-facial-digital syndrome, X-linked dominant, Miscarriage, Ciliopathy, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
المصدر: PLoS Genetics, Vol 13, Iss 1, p e1006470 (2017)
وصف الملف: electronic resource
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المؤلفون: Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
المصدر: Proceedings of the National Academy of Sciences. 119
مصطلحات موضوعية: Multidisciplinary
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56c9a88fa2335a3b60b5bbd6daecced
https://doi.org/10.1073/pnas.2204084119 -
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المؤلفون: Guney, Bademci, María, Lachgar-Ruiz, Mangesh, Deokar, Mohammad Faraz, Zafeer, Clemer, Abad, Muzeyyen, Yildirim Baylan, Neil J, Ingham, Jing, Chen, Claire J, Sineni, Nirmal, Vadgama, Ioannis, Karakikes, Shengru, Guo, Duygu, Duman, Nitu, Singh, Gaurav, Harlalka, Shirish P, Jain, Barry A, Chioza, Katherina, Walz, Karen P, Steel, Jamal, Nasir, Mustafa, Tekin
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(26)
مصطلحات موضوعية: Stereocilia, Mice, Loss of Function Mutation, Hearing Loss, Sensorineural, Animals, Humans, Receptors, Cell Surface, Receptor, Notch2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::eacbaf761d45a5055cb10b697436b728
https://pubmed.ncbi.nlm.nih.gov/35960848 -
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المؤلفون: Olivia Wenger, Matteo P. Ferla, Ilka Warshawsky, Martin Munteanu, Cas Simons, Matthew Wakeling, Claire G. Salter, Joshua A. Lees, Bernice Lo, Pietro De Camilli, Emma L. Baple, Sara Van Meerbeke, G. Christoph Korenke, Frederico Zara, Barry A. Chioza, Catherine Ward Melver, Manish J. Butte, M. Traverso, Henry Taylor, Marjo S. van der Knaap, Andrew H. Crosby, Matthew Keisling, Joseph S Leslie, Christin Deal, James Fasham, Helen Cox, Ethan M. Scott, Guy Helman, Amber J. McCartney, Yiying Cai, Mamoun Elawad, Tamas Marton, Nicole I. Wolf, Dirk Holzinger, Harold E. Cross, Holm H. Uhlig, Deyana Valcheva, Tamas Balla, Urania Kotzaeridou, Joanna Crawford, Andrea Accogoli, Utkucan Acar, Stephan Tippelt, Dimitris P. Agamanolis, Catherine Walsh Vockley
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Salter, C G, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke, G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, ' Biallelic PI4KA variants cause neurological, intestinal and immunological disease ', Brain, vol. 144, no. 12, pp. 3597-3610 . https://doi.org/10.1093/brain/awab313
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Pressمصطلحات موضوعية: Male, Cell type, Primary Immunodeficiency Diseases, Medizin, Intestinal Atresia, Disease, hypomyelinating leukodystrophy, Biology, Inflammatory bowel disease, Polymorphism, Single Nucleotide, Minor Histocompatibility Antigens, chemistry.chemical_compound, medicine, Humans, Phosphatidylinositol, multiple intestinal atresia, Immunodeficiency, Genetics, Kinase, AcademicSubjects/SCI01870, Original Articles, medicine.disease, Phenotype, Pedigree, FAM126A, Hereditary Central Nervous System Demyelinating Diseases, Phosphotransferases (Alcohol Group Acceptor), TTC7A, chemistry, Female, AcademicSubjects/MED00310, Neurology (clinical), PI4KA
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4d2ffb57a785b47391a6347add81c
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8 -
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المؤلفون: Hannah Jones, Tom Herr, Lorna W. Harries, Erik G. Puffenberger, Rebecca Evans, Harold E. Cross, Olivia Wenger, Angela Scheid, Ethan M. Scott, Jim Deline, Joanna Kennedy, Emma L. Baple, Lettie E. Rawlins, Zineb Ammous, Ryan M. Ames, Joseph S Leslie, Andrew H. Crosby, Barry A. Chioza
المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
PLoS Geneticsمصطلحات موضوعية: Cell signaling, Cancer Research, Heredity, Gene Expression, Signal transduction, QH426-470, Biochemistry, Homozygosity, Medical Conditions, Neurodevelopmental disorder, Intellectual disability, Gene expression, Medicine and Health Sciences, Global developmental delay, Musculoskeletal System, Genetics (clinical), Genetics, Transcriptional Control, RNA-Binding Proteins, SMAD NUCLEAR INTERACTING PROTEIN 1, Hypotonia, Phenotypes, Neurology, Anatomy, medicine.symptom, Research Article, Cell biology, Spliceosome, SMAD signaling, Genes, Recessive, Biology, Developmental Neuroscience, DNA-binding proteins, medicine, Humans, Gene Regulation, Craniofacial, Molecular Biology, Skeleton, Alleles, Ecology, Evolution, Behavior and Systematics, Skull, Biology and Life Sciences, Proteins, medicine.disease, Regulatory Proteins, Neurodevelopmental Disorders, Amish, Neuroscience, Transcription Factors
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المؤلفون: Muhammad Ikram Ullah, Tahir N. Khan, Maimoona Siddiqui, Gaurav V. Harlalka, Erica E. Davis, Talia Akram, Zaineb Akram, Chunyu Liu, Muhammad Jameel, Arsalan Ahmad, Kamal Khan, Sarmad Mehmood, Barry A. Chioza, Muhammad Jawad Hassan, Humayoon Shafique Satti, Raees Khan, Emma A. Baple, Andrew H. Crosby, Shahid Mahmood Baig, Belqees Yawar Faiz, Feng Zhang
المصدر: American journal of medical genetics. Part AREFERENCES. 188(2)
مصطلحات موضوعية: Genetics, Weakness, Calpain, Haplotype, Muscle Proteins, Pedigree chart, Biology, Disease gene identification, medicine.disease, Exon, Muscular Dystrophies, Limb-Girdle, RNA splicing, Mutation, medicine, Humans, Pakistan, RNA, Messenger, medicine.symptom, Genetics (clinical), Founder effect, Limb-girdle muscular dystrophy
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المؤلفون: Jonathan Mill, Eilis Hannon, Shyam Prabhakar, Alice Franklin, Emma Walker, Stefania Policicchio, Aaron R. Jeffries, Joe Burrage, Jinyue Liu, Jonathan P. Davies, Nicholas John Bray, Gina Commin, Barry A. Chioza, Emma Dempster
المصدر: European Neuropsychopharmacology. 51:e59-e60
مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, medicine.anatomical_structure, Neurology, DNA methylation, Cell type specific, medicine, Pharmacology (medical), Neurology (clinical), Human brain, Biology, Biological Psychiatry, Cell biology
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المؤلفون: Jay E. Self, Luke O'Gorman, Andrew H. Crosby, Emma L. Baple, Muhammad Jawad Hassan, Siying Lin, Muhammad Ikram Ullah, Shaheer Sabz Ali, Gaurav V. Harlalka, Sarmad Mehmood, Barry A. Chioza, Muhammad Shakil, Muhammad Salman Shabbir, Chelsea S. Norman, Ilaria D'Atri, Sarah Ennis, Haiba Kaul, Muhammad Arshad, Tahir Aman
المصدر: Meta Gene. 17:48-55
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, OCA2, Genetics, Genetic heterogeneity, Biology, medicine.disease, Oculocutaneous albinism, eye diseases, Frameshift mutation, SNP genotyping, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, symbols, medicine, Missense mutation, Genetics (clinical), Exome sequencing
وصف الملف: text