-
1دورية أكاديمية
المؤلفون: Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: prenatal exome sequencing, prenatal diagnosis, genomic sequencing, healthcare professionals, genetic services, service evaluation, Genetics, QH426-470
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
وصف الملف: electronic resource
-
3
المؤلفون: Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
المصدر: Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155 -
4
المؤلفون: Brian C.F. Ching, Sophie D. Bennett, Natalia Rojas, Isobel Heyman, Holan Liang, Matteo Catanzano, Anna E. Coughtrey, Tazeen Ashraf, Wendy D. Jones, Alison Male, Roz Shafran
المصدر: The Cognitive Behaviour Therapist. 15
مصطلحات موضوعية: Clinical Psychology, Experimental and Cognitive Psychology
-
5
المؤلفون: Aikaterini, Vezyroglou, Rhoda, Akilapa, Katy, Barwick, Saskia, Koene, Catherine A, Brownstein, Muriel, Holder-Espinasse, Andrew E, Fry, Andrea H, Németh, George K, Tofaris, Eleanor, Hay, Imelda, Hughes, Sahar, Mansour, Santosh R, Mordekar, Miranda, Splitt, Peter D, Turnpenny, Demetria, Demetriou, Tamara T, Koopmann, Claudia A L, Ruivenkamp, Pankaj B, Agrawal, Lucinda, Carr, Virginia, Clowes, Neeti, Ghali, Susan Elizabeth, Holder, Jessica, Radley, Alison, Male, Sanjay M, Sisodiya, Manju A, Kurian, J Helen, Cross, Meena, Balasubramanian
المصدر: Neurology. 99(14)
مصطلحات موضوعية: Phenotype, Cerebellar Ataxia, Dystonic Disorders, Mutation, Humans, Hemiplegia, Sodium-Potassium-Exchanging ATPase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::67592d339c174537fd45c21ca62fdf2c
https://pubmed.ncbi.nlm.nih.gov/36192182 -
6
المؤلفون: Maria Koutsogianni, Emma Wakeling, Alison Male, Karen Stals, Tazeen Ashraf
المصدر: Digital posters.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9f58a502669aa19aad6b9d4b558844c
https://doi.org/10.1136/archdischild-2021-gosh.30 -
7
المؤلفون: Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile
المصدر: Journal of the Peripheral Nervous System. 25:117-124
مصطلحات موضوعية: Adult, Male, Nervous system, Pediatrics, medicine.medical_specialty, Sensory axonal neuropathy, Kinesins, Primary Dysautonomias, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Central Nervous System Diseases, medicine, Humans, Spasticity, Child, Retrospective Studies, Dystonia, Spastic Paraplegia, Hereditary, business.industry, General Neuroscience, Infant, Peripheral Nervous System Diseases, Dysautonomia, medicine.disease, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Peripheral nervous system, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
-
8
المؤلفون: Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles, Lisa Adams, Julian Adlard, Rosa Alfonso, Saira Ali, Angela Andrew, Luís Araújo, Nazya Azam, Darran Ball, Queenstone Barker, Alon Basevitch, Barbara Benton, Cheryl Berlin, Nicola Bermingham, Leah Biller, Angela Bloss, Matilda Bradford, Nicola Bradshaw, Amy Branson, Charles Brendler, Maria Brennan, Barbara Bulman, Lucy Burgess, Declan Cahill, Alice Callard, Nuria Calvo Verges, Marta Cardoso, Vanda Carter, Mario Catanzaro, Anthony Chamberlain, Cyril Chapman, Michael Chong, Caroline Clark, Virginia Clowes, Lyn Cogley, Trevor Cole, Cecilia Compton, Tom Conner, Sandra Cookson, Philip Cornford, Philandra Costello, Laura Coulier, Michaela Davies, Christopher Dechet, Bianca DeSouza, Gemma Devlin, Fiona Douglas, Emma Douglas, Darshna Dudakia, Alexis Duncan, Natalie Ellery, Sarah Everest, Sue Freemantle, Mark Frydenberg, Debbie Fuller, Camila Gabriel, Madeline Gale, Lynda Garcia, Simona Gay, Elena Genova, Angela George, Demetra Georgiou, Alexandra Gisbert, Margaret Gleeson, Wayne Glover, Vincent Gnanapragasam, Sally Goff, David Goldgar, Nuno Gonçalves, Selina Goodman, Jennifer Gorrie, Hannah Gott, Anna Grant, Catherine Gray, Julie Griffiths, Karin Gupwell, Jana Gurasashvili, Eldbjørg Hanslien, Sigurdis Haraldsdottir, Rachel Hart, Catherine Hartigan, Lara Hawkes, Tricia Heaton, Alex Henderson, Rui Henrique, Kathrine Hilario, Kathryn Hill, Peter Hulick, Clare Hunt, Melanie Hutchings, Rita Ibitoye, Thomas Inglehearn, Joanna Ireland, Farah Islam, Siti Ismail, Chris Jacobs, Denzil James, Sharon Jenkins, Irene Jobson, Anne Johnstone, Oliver Jones, Sagi Josefsberg Ben-Yehoshua, Beckie Kaemba, Karen Kaul, Zoe Kemp, Netty Kinsella, Margaret Klehm, Roger Kockelbergh, Kelly Kohut, Monika Kosicka-Slawinska, Anjana Kulkarni, Pardeep Kumar, Jimmy Lam, Mandy LeButt, Dan Leibovici, Ramona Lim, Lauren Limb, Claire Lomas, Mark Longmuir, Consol López, Tiziana Magnani, Sofia Maia, Jessica Maiden, Alison Male, Merrie Manalo, Phoebe Martin, Donna McBride, Michael McGuire, Romayne McMahon, Claire McNally, Terri McVeigh, Ehud Melzer, Mark Mencias, Catherine Mercer, Gillian Mitchell, Josefina Mora, Catherine Morton, Cathryn Moss, Morgan Murphy, Declan Murphy, Shumi Mzazi, Maria Nadolski, Anna Newlin, Pedro Nogueira, Rachael O'Keefe, Karen O'Toole, Shona O'Connell, Chris Ogden, Linda Okoth, Jorge Oliveira, Edgar Paez, Joan Palou, Linda Park, Nafisa Patel, João Paulo Souto, Allison Pearce, Ana Peixoto, Kimberley Perez, Lara Petelin, Gabriella Pichert, Charlotte Poile, Alison Potter, Nadia Preitner, Helen Purnell, Ellen Quinn, Paolo Radice, Brigette Rankin, Katie Rees, Caroline Renton, Kate Richardson, Peter Risby, Jason Rogers, Maggie Ruderman, April Ruiz, Anaar Sajoo, Natale Salvatore, Victoria Sands, Francesco Sanguedolce, Ayisha Sattar, Kathryn Saunders, Lyn Schofield, Rodney Scott, Anne Searle, Ravinder Sehra, Christina Selkirk, Kylie Shackleton, Sue Shanley, Adam Shaw, Daniel Shevrin, Hannah Shipman, Zahirah Sidat, Kas Siguake, Kate Simon, Courtney Smyth, Lesley Snadden, Nita Solanky, Joyce Solomons, Margherita Sorrentino, Barbara Stayner, Robert Stephenson, Elena Stoffel, Maggie Thomas, Alan Thompson, Lizzie Tidey, Marc Tischkowitz, Audrey Torokwa, Sharron Townshend, Katy Treherne, Karen Tricker, Quoc-Dien Trinh, Vishakha Tripathi, Clare Turnbull, Riccardo Valdagni, Nicholas Van As, Vickie Venne, Lizzie Verdon, Marco Vitellaro, Kristen Vogel, Lisa Walker, Amy Watford, Cathy Watt, Ilana Weintroub, Shelly Weiss, Scott Weissman, Michelle Weston, Jennifer Wiggins, Gillian Wise, Christopher Woodhouse, Pembe Yesildag, Alice Youngs, Matthew Yurgelun, Fabiana Zollo
المساهمون: Urology, Brook, Mark N [0000-0002-8969-2378], Apollo - University of Cambridge Repository
المصدر: Bancroft, EK, Page, EC, Brook, MN, Thomas, S, Taylor, N, Pope, J, McHugh, J, Jones, AB, Karlsson, Q, Merson, S, Ong, KR, Hoffman, J, Huber, C, Maehle, L, Eeles, RA & Evans, D G 2021, ' A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. ', The Lancet. Oncology, vol. 22, no. 11, pp. 1618-1631 . https://doi.org/10.1016/S1470-2045(21)00522-2
The Lancet. Oncology, 22(11), 1618-1631. Lancet Publishing Group
LANCET ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
The Lancet. Oncologyمصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Prostate biopsy, Urology, Prostate-Specific Antigen/blood, DNA Mismatch Repair/genetics, DNA Mismatch Repair, Prostate cancer, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Biomarkers, Tumor, Humans, 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, Prospective Studies, Prospective cohort study, Early Detection of Cancer, Germ-Line Mutation, Aged, Prostatic Neoplasms/diagnosis, medicine.diagnostic_test, business.industry, Endometrial cancer, Incidence, Cancer, Prostatic Neoplasms, Articles, Prostate-Specific Antigen, Middle Aged, medicine.disease, Lynch syndrome, digestive system diseases, DNA-Binding Proteins, Prostate cancer screening, MutS Homolog 2 Protein, MSH2, Biomarkers, Tumor/blood, population characteristics, business, human activities, geographic locations, DNA-Binding Proteins/genetics, MutS Homolog 2 Protein/genetics
وصف الملف: application/pdf; text; Print-Electronic
-
9
المؤلفون: Julia Baptista, Olaf Bodamer, Drayden Kopp, Lara Menzies, Antonio Vitobello, Guiqiong He, Shreeya Kedia, Louise Amlie-Wolf, William J. Brucker, Laurence Faivre, Frédéric Tran Mau-Them, Alison Male, Pengqiang Wen, A. Micheil Innes, Guang Yang, Quan Long, Nina B. Gold, Quentin Thomas, Mikko Muona, Sarah L. Erickson, Karen W. Gripp, Melissa J. MacPherson, Mohamad-Reza Aghanoori, Katie Guegan, Kaylan M.L. Burns, Xing-Chang Wei
المصدر: Cell reports. 35(10)
مصطلحات موضوعية: 0301 basic medicine, Regulation of gene expression, Neurogenesis, RNA-Binding Proteins, Translation (biology), RNA-binding protein, Cell Differentiation, Nerve Tissue Proteins, Biology, Cell fate determination, General Biochemistry, Genetics and Molecular Biology, Neural stem cell, Cell biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neural Stem Cells, Nucleocytoplasmic Transport, CELF Proteins, Humans, Progenitor cell, 030217 neurology & neurosurgery
-
10
المؤلفون: Aline Renneville, Judith C. W. Marsh, Carolyn Owen, Andrew Green, Rogier Mous, Jude Fitzgibbon, Andrew R. Hallahan, David Taussig, Jun Wang, Josep F. Nomdedeu, Ahad F. Al Seraihi, Mark Layton, Nikolas Pontikos, Doris Steinemann, Kim Reay, Vincent Plagnol, Rachel Protheroe, Tim Ripperger, Susanna Akiki, Joanne Mason, Upal Hossain, Henrik Hjorth-Hansen, Anne Uyttebroeck, Amanda J. Walne, Nigel H. Russell, Jenna Alnajar, Nele Hug, Claude Preudhomme, Jamie Cavenagh, Findlay Bewicke-Copley, Csaba Bödör, Kiran Tawana, Adrian Bloor, Cynthia L. Toze, Alicia Ellison, Paula Page, Gabriela Sciuccati, Inderjeet Dokal, Tom Vulliamy, John K. Wu, Jiri Pavlu, Peter Vandenberghe, Hemanth Tummala, Elspeth Payne, Michael L. Barnett, David T. Bowen, Brigitte Schlegelberger, Priyanka Mehta, Ana Rio-Machin, Alison Male, Shirleny Cardoso, Hannah Armes, Anand Saggar, Sarah Lawson, Nuria Pujol-Moix, Javier F. Cáceres, Pierre Fenaux, Sally Killick
المصدر: Nature Communications
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Rio-machin, A, Vulliamy, T, Hug, N, Walne, A, Tawana, K, Cardoso, S, Ellison, A, Pontikos, N, Wang, J, Tummala, H, Al Seraihi, A F, Alnajar, J, Bewicke-Copley, F, Armes, H, Barnett, M, Bloor, A, Bodor, C, Bowen, D, Fenaux, P, Green, A, Hallahan, A, Hjorth-Hansen, H, Hossain, U, Killick, S, Lawson, S, Layton, M, Male, A M, Marsh, J, Mehta, P, Mous, R, Nomdedeu, J F, Owen, C, Pavlu, J, Payne, E, Protheroe, R, Predhomme, C, Pujol-Moix, N, Renneville, A, Russell, N, Saggar, A, Sciuccati, G, Taussig, D, Toze, C, Uyttebroeck, A, Vandenberghe, P, Schlegelberger, B, Ripperger, T, Steinemann, D, Wu, J, Mason, J, Page, P, El Akiki, S, Reay, K, Cavenagh, J D, Plagnol, V, Caceres, J F, Fitzgibbon, J & Dokal, I 2020, ' The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants ', Nature Communications . https://doi.org/10.1038/s41467-020-14829-5
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, Myeloid, Adenosine Deaminase, Vesicular Transport Proteins, General Physics and Astronomy, DYSKERATOSIS-CONGENITA, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, hemic and lymphatic diseases, CEBPA, Cancer genomics, RUNX1 MUTATIONS, lcsh:Science, Exome sequencing, MYELODYSPLASTIC SYNDROME, Genetics, Multidisciplinary, Receptors, Interleukin-17, Myeloid leukemia, SAMD9L MUTATIONS CAUSE, Pedigree, Multidisciplinary Sciences, Leukemia, Leukemia, Myeloid, Acute, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Science & Technology - Other Topics, RNA Helicases, Platelet disorder, Science, LINE, ACUTE MYELOID-LEUKEMIA, Platelet Membrane Glycoproteins, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Acute myeloid leukaemia, 03 medical and health sciences, Germline mutation, PLATELET DISORDER, Exome Sequencing, medicine, Humans, MECHANISTIC INSIGHTS, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Science & Technology, Perforin, Myelodysplastic syndromes, General Chemistry, Axonemal Dyneins, medicine.disease, Nonsense Mediated mRNA Decay, SELF-RENEWAL, 030104 developmental biology, Myelodysplastic Syndromes, lcsh:Q
وصف الملف: Electronic; application/pdf