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1دورية أكاديمية
المؤلفون: Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
المصدر: PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Joan Sala-Gaston, Eva M. Pérez-Villegas, José A. Armengol, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Francesc Ventura, Jose Luis Rosa
المصدر: Cell Death Discovery, Vol 10, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2058-7716
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4دورية أكاديمية
المؤلفون: Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
المصدر: BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Retinitis pigmentosa, Usher syndrome, Pakistani, PED6C, MYO7A, RHO, Ophthalmology, RE1-994
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2415
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المؤلفون: Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
المساهمون: Tábara, Luis Carlos [0000-0001-7684-3811], Courtin, Thomas [0000-0002-0275-2498], Leslie, Joseph S [0000-0003-0972-8818], Rawlins, Lettie E [0000-0002-6764-253X], Kunji, Edmund RS [0000-0002-0610-4500], Vona, Barbara [0000-0002-6719-3447], Houlden, Henry [0000-0002-2866-7777], Crosby, Andrew H [0000-0002-6637-3411], Prudent, Julien [0000-0003-3821-6088], Apollo - University of Cambridge Repository
مصطلحات موضوعية: mitochondria, mitochondria-ER contact sites/MERCs, Spastic Paraplegia, Hereditary, Mutation, Humans, endoplasmic reticulum/ER, Neurology (clinical), Calcium Channels, Endoplasmic Reticulum, TMEM63C, hereditary spastic paraplegia/HSP
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b13c34010c32ae9451b975e0a2602c6
https://www.repository.cam.ac.uk/handle/1810/335811 -
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المؤلفون: Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213 -
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المؤلفون: Joan Sala-Gaston, Leonardo Pedrazza, Juanma Ramirez, Arturo Martinez-Martinez, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Ugo Mayor, Francesc Ventura, Jose Luis Rosa
مصطلحات موضوعية: Proteomics, NF-E2-Related Factor 2, Ubiquitin-Protein Ligases, Protein Serine-Threonine Kinases, p38 Mitogen-Activated Protein Kinases, Antioxidants, Cellular and Molecular Neuroscience, Mice, cell stress, Proto-Oncogene Proteins, ubiquitin, Animals, Guanine Nucleotide Exchange Factors, Humans, Molecular Biology, Pharmacology, Ubiquitin, Cell Biology, neurodevelopmental disorder, MAPK, Proto-Oncogene Proteins c-raf, Oxidative Stress, angelman, Molecular Medicine, Mitogen-Activated Protein Kinases, Tumor Suppressor Protein p53, Ubiqüitina
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246e2e141f3466c5706349bb44dc56e2
https://doi.org/10.21203/rs.3.rs-1600424/v1 -
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المؤلفون: Shazia Khan, Gaurav V. Harlalka, Lettie E. Rawlins, Andrew H. Crosby, Wasim Ahmad, Shaheen Shahzad, Asma Gul, Muhammad Javed, Muhammad Umair, Asmat Ullah, Emma L. Baple
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Male, 0301 basic medicine, Exome sequencing, lcsh:Internal medicine, HEXB, lcsh:QH426-470, Genetic counseling, beta-Hexosaminidase beta Chain, Population, Genes, Recessive, Neurological disorder, Sandhoff disease, Polymorphism, Single Nucleotide, MBOAT7, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Lipid biosynthesis, Genetics, medicine, Humans, Pakistan, education, lcsh:RC31-1245, Genetics (clinical), education.field_of_study, business.industry, Homozygote, Infant, Membrane Proteins, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, lcsh:Genetics, 030104 developmental biology, Mutation, Female, Nervous System Diseases, business, Acyltransferases, 030217 neurology & neurosurgery, Research Article
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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: Leah Slattery, Emma L. Baple, Hilde Van Esch, Eyby Leon, Farida Abid, Margaret P. Adam, Bo Yuan, Cecilie F. Rustad, Amy M. Breman, Juanita Neira, Weimin Bi, Weihong Jin, Olivia Wenger, Yaping Yang, Jill A. Rosenfeld, John Dean, Laura Jenkins, Jennifer E. Posey, Chin-To Fong, Christian P. Schaaf, Asbjørg Stray-Pedersen, Lettie E. Rawlins, Teresa Santiago-Sim, Marguerite Pietryga, Linda A. Ramsdell, Sau Wai Cheung, Jullianne Diaz, Davut Pehlivan, Laura Martin, Andrew H. Crosby, Chad A. Shaw, Christine M. Eng, Louanne Hudgins, Pengfei Liu, Dorothy K. Grange, Suneeta Madan-Khetarpal, James R. Lupski, LaDonna Immken, Alison A. Bertuch, Marianne McGuire, Kristian Tveten, Xiaofei Song, Scott E. Hickey, Rui Xiao, Vipulkumar Patel, Janice L. Smith
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Male, 0301 basic medicine, Cornelia de Lange Syndrome, Adolescent, Chromosomal Proteins, Non-Histone, STAG2, STAG1, Cell Cycle Proteins, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Genetic Heterogeneity, 03 medical and health sciences, Gene Frequency, INDEL Mutation, Locus heterogeneity, De Lange Syndrome, Proto-Oncogene Proteins, Exome Sequencing, medicine, Humans, Exome, clinical exome sequencing (CES), Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Retrospective Studies, Genetics, Genetic heterogeneity, Nuclear Proteins, Antigens, Nuclear, Atypical cohesinopathies, NIPBL, medicine.disease, Human genetics, 3. Good health, Phenotype, cohesin pathway, 030104 developmental biology, Biological Variation, Population, Child, Preschool, Mutation, Female, Carrier Proteins