نتائج البحث - "Philip Holmgren"

المساهمون: EuroEPINOMICS RES Consortium, ESF, European Science Foundation, WT089062, Wellcome Trust, 098051, Wellcome Trust, 261123, EC, European Commission, DFG, Deutsche Forschungsgemeinschaft [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group) [research center], Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Ulrich, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Tarta Arsene, Oana, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P, Kirov, Andrey V, Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

المصدر: Suls, A, Jaehn, J A, Kecskés, A, Weber, Y, Weckhuysen, S, Craiu, D C, Siekierska, A, Djémié, T, Afrikanova, T, Gormley, P, von Spiczak, S, Kluger, G, Iliescu, C M, Talvik, T, Talvik, I, Meral, C, Caglayan, H S, Giraldez, B G, Serratosa, J, Lemke, J R, Hoffman-Zacharska, D, Szczepanik, E, Barisic, N, Komarek, V, Hjalgrim, H, Møller, R S, Linnankivi, T, Dimova, P, Striano, P, Zara, F, Marini, C, Guerrini, R, Depienne, C, Baulac, S, Kuhlenbäumer, G, Crawford, A D, Lehesjoki, A-E, de Witte, P A M, Palotie, A, Lerche, H, Esguerra, C V, De Jonghe, P, Helbig, I & EuroEPINOMICS RES Consortium 2013, ' De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome ', American Journal of Human Genetics, vol. 93, no. 5, pp. 967-975 . https://doi.org/10.1016/j.ajhg.2013.09.017Test
The American journal of human genetics
American Journal of Human Genetics, 93(5), 967-975. (2013).
ResearcherID
The American Journal of Human Genetics; Vol 93

مصطلحات موضوعية: Male, Proband, Epilepsies, Myoclonic, Haploinsufficiency, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Intellectual disability, Genetics(clinical), Exome, Cognitive decline, Child, Multidisciplinary, general & others [D99] [Human health sciences], Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, 3. Good health, DNA-Binding Proteins, Phenotype, Gene Knockdown Techniques, Larva, Female, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Biology, Seizures, Febrile, Young Adult, 03 medical and health sciences, Dravet syndrome, Report, Intellectual Disability, medicine, Animals, Humans, 030304 developmental biology, Danio rerio, Dravet Syndrome, DNA fragment, medicine.disease, DNA binding protein, NAV1.1 Voltage-Gated Sodium Channel, CHD2, Immunology, Human medicine, Cognition Disorders, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0e22ad1eaf15b4fd1ad1275cf9dca5Test
https://doi.org/10.1016/j.ajhg.2013.09.017Test

5

Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test

المؤلفون: Katrien, Janssens, Kathleen, Deiteren, Anke, Verlinden, Liesbeth, Rooms, Sigri, Beckers, Philip, Holmgren, Katrien, Vermeulen, Marie-Berthe, Maes, Geert, Mortier, Bettina, Blaumeiser

المصدر: Prenatal diagnosis. 36(8)

مصطلحات موضوعية: Adult, Chromosomes, Human, Pair 22, Fusion Proteins, bcr-abl, DNA, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Translocation, Genetic, Pregnancy Trimester, First, Pregnancy, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Prenatal Diagnosis, Humans, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Pregnancy Complications, Neoplastic, In Situ Hybridization, Fluorescence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fa045016133e059dbf08ecaf81b59306Test
https://pubmed.ncbi.nlm.nih.gov/27293081Test

6

Improving Care And Research Electronic Data Trust Antwerp (iCAREdata) : a research database of linked data on out-of-hours primary care

المؤلفون: Roy Remmen, Veronique Verhoeven, Philip Holmgren, Paul Van Royen, Hilde Philips, Annelies Colliers, Samuel Coenen, Barbara Michiels, Hilde Bastiaens, Stefaan Bartholomeeusen, Bernard De Ruyck

المصدر: BMC research notes
BMC Research Notes

مصطلحات موضوعية: medicine.medical_specialty, Quality management, Databases, Factual, Primary care, General Biochemistry, Genetics and Molecular Biology, Database, 03 medical and health sciences, 0302 clinical medicine, Out of hours, Interdisciplinary, After-Hours Care, Nursing, Health care, medicine, 030212 general & internal medicine, Medicine(all), After hours care, Primary Health Care, Biochemistry, Genetics and Molecular Biology(all), business.industry, 030503 health policy & services, food and beverages, Emergency Department, General Medicine, Linked data, Emergency department, Data linkage, Quality Improvement, Family medicine, Project Note, Electronic data, Human medicine, 0305 other medical science, business, Database research

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ff74f3f44514665938feb791f633d4Test
https://hdl.handle.net/10067/1333330151162165141Test

7

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

المؤلفون: Samuel F. Berkovic, Philip Holmgren, Dirk Goossens, Jurgen Del-Favero, T Van Dyck, Berten Ceulemans, Kristien Verhaert, Lieven Lagae, Ingrid E. Scheffer, Albena Jordanova, Anna Jansen, Arvid Suls, Liesbet Deprez, P. De Jonghe, Simone C. Yendle, R. Van Coster, Sarah Weckhuysen

المساهمون: Neurology, American Academy Of, Public Health Care

المصدر: Neurology
ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d1d8d514bc8605e6877b5a30f3fd6cTest
https://doi.org/10.1212/wnl.0b013e3181f4d7bfTest

8

PRRT2 mutations: exploring the phenotypical boundaries

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Reproduction and Genetics, Neurogenetics, Clinical sciences

المصدر: Journal of neurology, neurosurgery and psychiatry
Vrije Universiteit Brussel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0e0f85a70dbe27f18692d77f0f611eTest
https://biblio.vub.ac.be/vubir/prrt2-mutations-exploring-the-phenotypical-boundariesTest(1d061c24-3f0b-4d98-9871-4aa92b8bc248).html

9

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

المساهمون: Schwartzkroin, Philip A., Shorvon, Simon D., Public Health Care, Neurogenetics, Pediatrics

المصدر: Epilepsia, Vol. 54, No 5 (2013) pp. e74-80
S, W, P, H, R, H, A, J, Møller, R S & Hjalgrim, H 2013, ' Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers ', Epilepsia, vol. 54, no. 5, pp. e74-e80 . https://doi.org/10.1111/epi.12124Test
Epilepsia

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Ohtahara syndrome, Pediatrics, Mutation/genetics, Encephalopathy, Neuropathology, Young Adult, Munc18 Proteins, Seizures/etiology/genetics/pathology/surgery, Seizures, Genetics, Medicine, Humans, genetics, Genetic Predisposition to Disease, Epilepsy surgery, Early myoclonic encephalopathy, Child, Biology, Spasms, Infantile/complications/genetics, ddc:618, business.industry, Epileptic encephalopathy, Genetic Predisposition to Disease/genetics, Brain, Infant, West Syndrome, Electroencephalography, Cortical dysplasia, West syndrome, medicine.disease, Epileptic spasms, Munc18 Proteins/genetics, Neurology, Phosphopyruvate Hydratase, Child, Preschool, Mutation, Brain/metabolism/pathology, Female, Neurology (clinical), Human medicine, business, Phosphopyruvate Hydratase/metabolism, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c085243c07b5e3107dad68e7c3244521Test
https://archive-ouverte.unige.ch/unige:34839Test

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