المؤلفون: Pranai Tandon, Evan Leibner, Anna Hackett, Katherine Maguire, Kayla Leonardi, Matthew A. Levin, Roopa Kohli-Seth

المصدر: Acute and Critical Care, Vol 37, Iss 3, Pp 339-346 (2022)

مصطلحات موضوعية: covid-19, mortality, omicron, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://www.accjournal.org/upload/pdf/acc-2022-00675.pdf; https://doaj.org/toc/2586-6052; https://doaj.org/toc/2586-6060

URL الوصول: https://doaj.org/article/c131ab5b235b49f1a9d18d1546bf87ca

المؤلفون: Pranai Tandon, MD, Evan S. Leibner, MD, PhD, Anna Hackett, BS, Katherine Maguire, MPH, Nazia Mashriqi, MD, Roopa Kohli-Seth, MD

المصدر: Critical Care Explorations, Vol 4, Iss 3, p e0653 (2022)

مصطلحات موضوعية: Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/CCE.0000000000000653; https://doaj.org/toc/2639-8028

URL الوصول: https://doaj.org/article/8bebbdb3be804637829d696296895c9d

المؤلفون: Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

المصدر: BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: 2D photography, Clinical genetics, Computer vision, Computational biology, Dysmorphology, Facial gestalt, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12896-017-0410-1; https://doaj.org/toc/1472-6750

URL الوصول: https://doaj.org/article/f41c018183714148aa26ab2316eab2a5

المؤلفون: Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J. Amor, Greg B. Peters, Michael Field, Tracy Dudding‐Byth

المصدر: Clinical Genetics. 103:681-687

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4b8f55e9db7dcb51da7d51ce5f72ac
https://doi.org/10.1111/cge.14303

المؤلفون: Anna Hackett, Celia Wells, Lora Drew, Joseph Curto, Petrona Ennis-Welch, Kimberly Zafra, Kathryn Bass, Daniel Rosen, Rohit Gupta, Roopa Kohli-Seth

المصدر: Journal of the American Association of Nurse Practitioners.

مصطلحات موضوعية: General Medicine, General Nursing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::503a7a528ca62d4a7462410c85815e32
https://doi.org/10.1097/jxx.0000000000000833

المؤلفون: Ziya Zhang, Alan Weinberg, Anna Hackett, Celia Wells, Atinuke Shittu, Christy Chan, Kathryn Bass, Yoland Philpotts, Rohit Gupta, Roopa Kohli-Seth

المصدر: The American journal of hospicepalliative care.

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada3b68f4b489b0319251803991336a5
https://pubmed.ncbi.nlm.nih.gov/36546887

المؤلفون: Celia Wells, Ziya Zhang, Evan Leibner, Jaclyn Rivera, Anna Hackett, Juliana Guiney, Jennifer Kero, Roopa Kohli-Seth, Amy Brito, Joventino Soriano

المصدر: Journal of Pediatric Nursing. 61:394-403

مصطلحات موضوعية: Pediatric intensive care unit, education.field_of_study, medicine.medical_specialty, Peripheral intravenous, business.industry, Population, Vascular access, Intensive Care Units, Pediatric, Pediatrics, Simulation training, Intervention (counseling), Intensive care, Catheterization, Peripheral, Injections, Intravenous, Emergency medicine, Humans, Medicine, Clinical Competence, Child, business, Training program, education, Ultrasonography, Interventional

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cbb916f9e6badc9324fae162bc26771
https://doi.org/10.1016/j.pedn.2021.09.017

المؤلفون: Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1

المؤلفون: David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall

المصدر: European journal of human genetics : EJHG.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9193b503817104ea8baf69601988201
https://pubmed.ncbi.nlm.nih.gov/36446895

المؤلفون: Louise Christie, Thuong T. Ha, Patricia Sullivan, Thessa Kroes, Jozef Gecz, Mark A. Corbett, Tony Roscioli, Anna Hackett, Lisa Ewans, Cheryl Shoubridge, Marcel E. Dinger, Atma M. Ivancevic, Alison Gardner, Raman Kumar, Elizabeth E. Palmer, Sayaka Kayumi, Renee Carroll, Tracy Dudding-Byth, Mark J. Cowley, Marie Shaw, Michael Field, Charles E. Schwartz

المصدر: Human Mutation. 42:835-847

مصطلحات موضوعية: Whole genome sequencing, Regulation of gene expression, Genetics, 0303 health sciences, X-linked intellectual disability, 030305 genetics & heredity, Alternative splicing, Gene Expression, Genomics, Biology, medicine.disease, Phenotype, DNA sequencing, Pedigree, 03 medical and health sciences, Genes, X-Linked, Intellectual Disability, medicine, Humans, Trinucleotide repeat expansion, Gene, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e6bd121eb3728f96d6451cc3385d36
https://doi.org/10.1002/humu.24207

المؤلفون: Anna Hackett, Celia Wells, Rohit Gupta, Roopa Kohli‐Seth

المصدر: Nursinghealth sciences. 24(3)

مصطلحات موضوعية: Adult, SARS-CoV-2, Health Personnel, COVID-19, Humans, General Medicine, Pandemics, Personal Protective Equipment, General Nursing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e043b82db0db7fcbb6c36880701b8fa
https://pubmed.ncbi.nlm.nih.gov/35929197

المؤلفون: Ella Illuzzi, Celia Wells, Anna Hackett, Darlene Ricco, Anne Haran, Christal Gittens, Maria Sevillano, Meryl Castro, Eva Develleres, Mardisa Samson Ramos, Ziya Zhang, John Oropello, Roopa Kohli-Seth

المصدر: Critical care nurse. 42(3)

مصطلحات موضوعية: Diabetes Mellitus, Type 2, Quality of Life, Humans, Female, General Medicine, Middle Aged, Critical Care Nursing, Tracheal Stenosis, Asthma, Transplant Recipients

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21864f04f53d7ba77d9b436f24238d68
https://pubmed.ncbi.nlm.nih.gov/35640895

المؤلفون: Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

المصدر: European journal of human genetics : EJHG. 30(10)

مصطلحات موضوعية: Base Sequence, Whole Genome Sequencing, Exome Sequencing, Genetics, Chromosome Mapping, Humans, Exome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6f9de4b9af8f6385a7da9953edaf85
https://pubmed.ncbi.nlm.nih.gov/35970915

المؤلفون: Belinda Suthers, Benjamin Julien, Anna Hackett, Clare Tiedeman, Patrick Oakley

المصدر: Internal Medicine Journal. 49:962-968

مصطلحات موضوعية: Male, Rural Population, medicine.medical_specialty, Native Hawaiian or Other Pacific Islander, Referral, Population, Disease, 030204 cardiovascular system & hematology, Indigenous, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Diabetes mellitus, Internal Medicine, medicine, Health Services, Indigenous, Humans, 030212 general & internal medicine, Healthcare Disparities, Indigenous Peoples, education, Referral and Consultation, Stroke, Aged, Quality of Health Care, education.field_of_study, business.industry, Middle Aged, medicine.disease, Hospitalization, Logistic Models, Emergency medicine, Female, Carotid imaging, New South Wales, business, Historical Cohort

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11bbaa2c9ad33a1574619dfbcfbfb6b
https://doi.org/10.1111/imj.14303

المؤلفون: Jamel Chelly, Anna Hackett, Jozef Gecz, Eric Bieth, Anne Faudet, Delphine Heron, R. Frank Kooy, Bart Loeys, Yann Humeau, Carlo Sala, Pierre Billuart

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/24/4/1106.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.944.985; http://hmg.oxfordjournals.org/content/24/4/1106.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.944.985
http://hmg.oxfordjournals.org/content/24/4/1106.full.pdf

المؤلفون: Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Numann, Andreas R Janecke, Ralf Sporle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jamel Chelly, Ben Hamel, Jozef Gecz, Andreas W Kuss

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.pathogeneticsjournal.com/content/pdf/1755-8417-3-2.pdf.

مصطلحات موضوعية: Article type

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.215.1900; http://www.pathogeneticsjournal.com/content/pdf/1755-8417-3-2.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.215.1900
http://www.pathogeneticsjournal.com/content/pdf/1755-8417-3-2.pdf

المؤلفون: Rolph Pfundt, Bregje W.M. van Bon, Petra de Vries, Carl Baker, Marloes Steehouwer, Bradley P. Coe, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Han G. Brunner, David A. Koolen, Caroline Nava, Daniëlle G. M. Bosch, Anna Hackett, Hilde Van Esch, Fleur Vansenne, Alexander Hoischen, Christian Gilissen, Kali Witherspoon, Heather C Mefford, Martin Jakob Larsen, Janneke H M Schuurs-Hoeijmakers, Malin Kvarnung, Gemma L. Carvill, Bert B.A. de Vries, Fiona Haslam McKenzie, Maartje van de Vorst, Mirella Vinci, Jozef Gecz, Carlo Marcelis, Sandra Jansen, Marijke Bauters, Raphael Bernier, Joris A. Veltman, Corrado Romano, Evan E. Eichler, Ulla A Andersen, Hedi L Claahsen-van der Grinten, Connie T.R.M. Stumpel, Lucia Grillo, Marie Lorraine Monin, Servi J. C. Stevens

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), MUMC+: DA Klinische Genetica (5)

المصدر: European Journal of Human Genetics, 26(1), 54. Nature Publishing Group
European Journal of Human Genetics, 26(1), 54-63. Nature Publishing Group
European Journal of Human Genetics, 26, 54-63
European Journal of Human Genetics, 26, 1, pp. 54-63
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5

مصطلحات موضوعية: Male, 0301 basic medicine, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], AUTISM SPECTRUM DISORDERS, Haploinsufficiency, Disease, DOMAIN-INTERACTING PROTEIN, 0302 clinical medicine, Intellectual disability, Genotype, OF-FUNCTION MUTATIONS, SCHIZOPHRENIA, Child, Genetics (clinical), Genetics, DEVELOPMENTAL DELAY, Genotype-first approach, Intracellular Signaling Peptides and Proteins, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Phenotype, Sequence Analysis, DNA/methods, Female, Sequence Analysis, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, GENES, Adolescent, Biology, Article, SIGNALING PATHWAYS, UBIQUITIN LIGASE, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intellectual Disability, medicine, Humans, Genetic Testing, Overweight/genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Reproducibility of Results, LINKED MENTAL-RETARDATION, DNA, Sequence Analysis, DNA, Overweight, medicine.disease, Intellectual Disability/genetics, Human genetics, 030104 developmental biology, DE-NOVO MUTATIONS, Autism, Intracellular Signaling Peptides and Proteins/genetics, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40caced28f86c97b1448dfa2a27ded01
https://hdl.handle.net/2066/183753

المؤلفون: Martin B. Delatycki, Elsdon Storey, Weiyi Mu, David J. Szmulewicz, David J. Amor, Greta Gillies, Solange Kapetanovic, Michael A. Eberle, Shaun R.D. Watson, Andrew M. Chancellor, Brent L. Fogel, Kate Pope, Paul J. Lockhart, Nara Sobreira, Mark F. Bennett, Anna Hackett, Stuart Mossman, María García Barcina, Susan Perlman, Ian Rosemargy, David Valle, Anthony E. Lang, David P. Breen, Haloom Rafehi, G. Michael Halmagyi, Katherine R. Smith, Michael A Wilson, Peter Diakumis, Melanie Bahlo, Phillip D. Cremer, David S. Zee, Egor Dolzhenko, Peter Patrikios

مصطلحات موضوعية: Whole genome sequencing, 0303 health sciences, Haplotype, Alu element, Computational biology, Molecular diagnostics, DNA sequencing, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Microsatellite, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, 030304 developmental biology, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd1f351d59c39f326326eaac3811d614
https://doi.org/10.1101/597781

المؤلفون: Anna Hackett, Jozef Gecz, Alina Ilie, Marie Shaw, Wujood Khayat, Tracy Dudding-Byth, Michael Field, Louise Christie, Brian Kirmse, John Orlowski, Mark A. Corbett, Jane Juusola, Vera M. Kalscheuer, Kathryn Friend

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Glycosylation, Sodium-Hydrogen Exchangers, X-linked intellectual disability, Mutation, Missense, Golgi Apparatus, CHO Cells, medicine.disease_cause, Transfection, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Cricetulus, Viral Envelope Proteins, Cricetinae, Intellectual Disability, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), chemistry.chemical_classification, 0303 health sciences, Mutation, Membrane Glycoproteins, biology, Chinese hamster ovary cell, 030305 genetics & heredity, Cell Membrane, Genetic Diseases, X-Linked, General Medicine, Golgi apparatus, medicine.disease, biology.organism_classification, Cell biology, Transport protein, Protein Transport, chemistry, Gene Expression Regulation, Vesicular stomatitis virus, symbols, General Article, Glycoprotein, Acids, trans-Golgi Network

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c7be528898d83270191673af76aadc
https://hdl.handle.net/21.11116/0000-0003-5559-A21.11116/0000-0002-5F72-4

المؤلفون: Melanie M. May, Jozef Gecz, Patrick S. Tarpey, Annick Toutain, Pierre-Simon Jouk, Slyvain Briault, Lucy Raymond, Cindy Skinner, William Allen, Roger E. Stevenson, Anna Hackett, William Heath, Tao Wang, Tejasvi Niranjan, Siddharth Srivastava, Charles E. Schwartz

المصدر: Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, X-linked intellectual disability, Mutation, Missense, Nerve Tissue Proteins, Bone Morphogenetic Protein 4, 030105 genetics & heredity, Biology, Cyclic AMP Response Element-Binding Protein A, MED12, Craniofacial Abnormalities, 03 medical and health sciences, Protein Domains, Shh signaling, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Hedgehog Proteins, Molecular Biology, Genetics (clinical), Cells, Cultured, Mediator Complex, XLID, Original Articles, qRT‐PCR, Middle Aged, medicine.disease, Hedgehog signaling pathway, Pedigree, 030104 developmental biology, Mutation (genetic algorithm), Mutation, Mental Retardation, X-Linked, SHH Signaling, Original Article, Human medicine, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdcef187a4f1c5428b288d4b75814a43
https://repository.uantwerpen.be/docstore/d:irua:2789