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)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb

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)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca

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

URL الوصول: https://doaj.org/article/0e471a4904ad40a3b415c0182d7f8144

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

URL الوصول: https://doaj.org/article/714d8d655b1d45cf87f92dd5c5c4f5b4

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

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

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

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 Genetics

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::641715b7c307cfe2b925cf7b8e45675b
https://doaj.org/article/6bcad50c52f9412a80b170614d58f361

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 Genetics

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a1ec8bc51f04bdbc7cf73254007e68
https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57184ef43052f23758e3c52e4ff202e3
https://doi.org/10.1038/s41436-018-0085-6