المؤلفون: Katie Kerr, Caoimhe McKenna, Shirley Heggarty, Caitlin Bailie, Julie McMullan, Ashleen Crowe, Jill Kilner, Michael Donnelly, Saralynne Boyle, Gillian Rea, Cheryl Flanagan, Shane McKee, Amy Jayne McKnight

المصدر: Genes, Vol 13, Iss 7, p 1104 (2022)

مصطلحات موضوعية: genomics, rare disease, collaboration, public health, multiomics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/7/1104Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c8b635d937f94133971e53bd5479f785Test

المؤلفون: Kelly Reilly, Caoimhe McKenna, Simon McCullough, Shane McKee, Fionnuala Mone

المصدر: Reilly, K, McKenna, C, McCullough, S, McKee, S & Mone, F 2023, ' Prenatal genomic testing for ultrasound detected fetal structural anomalies ', The Obstetrician and Gynaecologist, vol. 25, no. 2, pp. 121-130 . https://doi.org/10.1111/tog.12870Test

مصطلحات موضوعية: genomic, fetus, quantitative fluorescence polymerase chain reaction, Prenatal, Reviews, General Medicine, Sequence Analysis, DNA, Review, Fetus/abnormalities, chromosome microarray, exome sequencing, fetal structural anomaly

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fabda5d1ff8dc432836cfd83e7f9407Test
https://pure.qub.ac.uk/en/publications/df68ff1d-42fe-4a80-a4dd-bfa20ee57c04Test

المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics

المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9Test
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

مصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62Test
http://hdl.handle.net/2066/290784Test

المؤلفون: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M.B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, S.C. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

المصدر: Genetics in Medicine
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3Test

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Laminopathy, laminopathy, Biology, Brief Communication, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome, Genetics (clinical), Genetics, Progeria, Lamin Type B, primary microcephaly, Laminopathies, medicine.disease, Phenotype, neurodevelopmental disorder, 030104 developmental biology, LMNB1, LMNB2, Nuclear lamina, 030217 neurology & neurosurgery, Lamin

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c3afeb46142409f18e86e168fe778aTest

المؤلفون: Caoimhe McKenna, Greg J. Knepil, Kieran Walker, Colin Baker, Charles Hooper

المصدر: The British Journal of Oral & Maxillofacial Surgery
British Journal of Oral and Maxillofacial Surgery

مصطلحات موضوعية: Medical education, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), education, Professional development, MEDLINE, Intensive care unit, law.invention, Intensive Care Units, Otorhinolaryngology, law, Humans, Medicine, Surgery, Oral Surgery, business, RA, Letter to the Editor

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::822172a90b410b168f58ff4ce6f369bfTest
https://doi.org/10.1016/j.bjoms.2020.09.029Test

المؤلفون: Emma Wakeling, Caoimhe McKenna, Neeti Ghali, F. M. Pope, Anthony Vandersteen

المصدر: Clinical Dysmorphology. 26:50-57

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Genotype, 030105 genetics & heredity, Pathology and Forensic Medicine, 03 medical and health sciences, Humans, Medicine, Alleles, Genetics (clinical), business.industry, Infant, Newborn, Facies, Infant, Amino acid substitution, General Medicine, medicine.disease, Infant newborn, Ehlers-Danlos syndrome type IV, Collagen Type III, Phenotype, Amino Acid Substitution, Ehlers–Danlos syndrome, Mutation, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf69251bd2aa40ece3e8b164b39bc1cTest
https://doi.org/10.1097/mcd.0000000000000138Test

المؤلفون: Andrea Beech, Caoimhe McKenna, Charles Hooper

المصدر: British Journal of Oral and Maxillofacial Surgery. 58:e215

مصطلحات موضوعية: Medical education, Core (anatomy), Otorhinolaryngology, business.industry, Perception, media_common.quotation_subject, Oral and maxillofacial surgery, Medicine, Surgery, Oral Surgery, business, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9e57aa957cdb69e97a9d3d7c882c5377Test
https://doi.org/10.1016/j.bjoms.2020.10.238Test

المؤلفون: Andrea Beech, Caoimhe McKenna, Charlie Hooper

المصدر: British Journal of Oral and Maxillofacial Surgery. 58:e145

مصطلحات موضوعية: medicine.medical_specialty, Otorhinolaryngology, business.industry, Oral surgery, Project commissioning, General surgery, Medicine, Surgery, Oral Surgery, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5d536317b09798898e117c69fea27102Test
https://doi.org/10.1016/j.bjoms.2020.10.038Test

المؤلفون: Charles Stewart, Caoimhe McKenna, Olugbenga Akinkugbe

المصدر: Pediatric emergency care. 35(10)

مصطلحات موضوعية: Male, Methicillin-Resistant Staphylococcus aureus, medicine.medical_specialty, Staphylococcus aureus, Adolescent, Fever, medicine.drug_class, Antibiotics, Arthritis, Pain, medicine.disease_cause, Bone and Bones, 03 medical and health sciences, 0302 clinical medicine, Pediatric emergency medicine, 030225 pediatrics, Internal medicine, Streptococcal Infections, medicine, Humans, 030212 general & internal medicine, Child, Retrospective Studies, Arthritis, Infectious, medicine.diagnostic_test, business.industry, Pediatric Emergency Medicine, Osteomyelitis, Infant, Newborn, Infant, Streptococcus, Retrospective cohort study, General Medicine, Staphylococcal Infections, medicine.disease, Erythrocyte sedimentation rate, Child, Preschool, Pediatrics, Perinatology and Child Health, Emergency Medicine, Septic arthritis, Female, Joints, business, Emergency Service, Hospital, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2edad7adba9dc9a0a85e0b0aa31d8991Test
https://pubmed.ncbi.nlm.nih.gov/29509649Test

المؤلفون: Johan Lindqvist, Caoimhe McKenna, Emily M LeProust, Ramakrishna Kurapati, Paul Denny, Michelle Simon, Natalie Carroll, Jane Baker, Michael Cheeseman, Julien Ochala, Steve Laval, Debbie Williams, Gonzalo Blanco, Hanns Lochmüller

المصدر: Human Molecular Genetics. 21:1706-1724

مصطلحات موضوعية: Heterozygote, Transcription, Genetic, Protein Conformation, Molecular Sequence Data, Mutant, Genes, Recessive, Biology, Mice, Protein structure, Muscular Diseases, Myofibrils, Mutant protein, Myosin, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Actin, Myosin Heavy Chains, Homozygote, Skeletal muscle, General Medicine, Molecular biology, Protein Structure, Tertiary, medicine.anatomical_structure, Mutation, Myofibril

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9e212eb85d7af5fadeeef9f93a1763Test
https://doi.org/10.1093/hmg/ddr605Test