المؤلفون: Martin Prøven Bogsrud, Albert Wiegman, Elodie Fastré, Tomáš Freiberger, Jeanine E. Roeters van Lennep, Anne De Leener, Olivier S. Descamps, Kirsten B. Holven, Steve E. Humphries, Vasiliki Mollaki, Michal Vrablík, Lukas Tichy, Hans Dieplinger, Harald Esterbauer, Marta Futema, Euridiki Drogari, Ana Margarida Medeiros, Susanne Greber-Platzer, Uma Ramaswami, Mafalda Bourbon

المساهمون: Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, ACS - Atherosclerosis & ischemic syndromes, Cardiology, Internal Medicine, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - SSS/DDUV/SIGN - Cell signalling, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Atherosclerosis, 319, 108-117. Elsevier Ireland Ltd
Atherosclerosis, Vol. 319, p. 108-117 (2021)

مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein B, DNA Mutational Analysis, Heterozygous Familial Hypercholesterolaemia, 030204 cardiovascular system & hematology, Doenças Cardio e Cérebro-vasculares, LDL-C concentrations, 0302 clinical medicine, Belgium, Low density, Mutation Spectrum, Medicine, Family history, Child, Pre and post, Czech Republic, Netherlands, Greece, biology, Norway, Statin Treatment, Lipids, 3. Good health, Europe, Austria, Mutation (genetic algorithm), lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, LDL-C Concentrations, medicine.medical_specialty, Statin treatment, Heterozygous familial hypercholesterolaemia, Hyperlipoproteinemia Type II, 03 medical and health sciences, Mutation spectrum, Internal medicine, Humans, Portugal, business.industry, PCSK9, nutritional and metabolic diseases, 030104 developmental biology, Receptors, LDL, Mutation, LDL receptor, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ca2e1be952f46244c5d3eebc8850aeTest
https://pure.amc.nl/en/publications/comparison-of-the-mutation-spectrum-and-association-with-pre-and-post-treatment-lipid-measures-of-children-with-heterozygous-familial-hypercholesterolaemia-fh-from-eight-european-countriesTest(ffdaf067-8c49-425c-a03d-6fa0d6ba5def).html

المؤلفون: Joris Vermeesch, Benoit Parmentier, Julie Désir, Mauricette Jamar, Damien Lederer, Winnie Courtens, Anne De Leener, Sandra Janssens, Philip Holmgren, Nathalie Brison, Kathelijn Keymolen, Claude Bandelier, Annelies Dheedene, Yves Jacquemyn, Koenraad Devriendt, Marjan De Rademaeker, Bruno Pichon, Erik Fransen, Jean-Stéphane Gatot, Marije Meuwissen, Sonia Rombout, Anne Destree, Olivier Vanakker, J. Muys, Bettina Blaumeiser, Katrien Janssens, Patrizia Chiarappa, Björn Menten, Annelies Fieuw, Kris Van Den Bogaert, Yves Sznajer, Saskia Bulk, Ann Van Den Bogaert

المساهمون: Clinical sciences, Reproduction and Genetics, Medical Genetics, Faculty of Medicine and Pharmacy

المصدر: Prenatal Diagnosis. 38:1120-1128

مصطلحات موضوعية: Adult, 0301 basic medicine, Ichthyosis, X-Linked, DNA Copy Number Variations, Microarray, Population, Prenatal diagnosis, Haploinsufficiency, 030105 genetics & heredity, computer.software_genre, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Belgium, Charcot-Marie-Tooth Disease, Pregnancy, Prenatal Diagnosis, Obstetrics and Gynaecology, Databases, Genetic, DiGeorge Syndrome, Humans, Medicine, Genetics(clinical), Genetic Predisposition to Disease, Copy-number variation, education, Uncertain significance, Genetics (clinical), Arthrogryposis, Chromosome Aberrations, Comparative Genomic Hybridization, education.field_of_study, Fetus, 030219 obstetrics & reproductive medicine, Database, business.industry, Obstetrics and Gynecology, Microarray Analysis, Pathogenicity, Karyotyping, Female, National database, Hereditary Sensory and Motor Neuropathy, business, computer

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81b769ff9dc6575ea7f660ac7246c53Test
https://doi.org/10.1002/pd.5373Test

المؤلفون: Sandra Janssens, Koenraad Devriendt, Joris Vermeesch, Julie Désir, J. Muys, Erik Fransen, Marjan De Rademaeker, Bettina Blaumeiser, Saskia Bulk, Katrien Janssens, Damien Lederer, Armelle Duquenne, Laura Bourlard, Björn Menten, Kathelijn Keymolen, Mauricette Jamar, Nathalie Brison, Ann Van Den Bogaert, Annelies Dheedene, Yves Sznajer, Yves Jacquemyn, Jean-Stéphane Gatot, Anne Destree, Bruno Pichon, Patrizia Chiarappa, Jorien Kerstjens, Annelies Fieuw, Kris Van Den Bogaert, Anne De Leener, Sonia Rombout

المساهمون: Clinical sciences, Medical Genetics

المصدر: Prenatal diagnosis

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Context (language use), 030105 genetics & heredity, Congenital Abnormalities, National cohort, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Belgium, Pregnancy, Prenatal Diagnosis, medicine, Humans, Copy-number variation, Genetics (clinical), Chromosome Aberrations, 030219 obstetrics & reproductive medicine, business.industry, Significant difference, Infant, Newborn, Pregnancy Outcome, Follow up studies, Infant, Obstetrics and Gynecology, Microarray Analysis, medicine.disease, Child development, eye diseases, Patient population, Case-Control Studies, Child, Preschool, Female, Human medicine, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b52db2e8dae2d0cf945fa66c52a30acTest
https://repository.uantwerpen.be/docstore/d:irua:2802Test

المؤلفون: Ann Verhaegen, Olivier Van Caenegem, Raymond Kacenelenbogen, Michel Guillaume, Fabian Demeure, Caroline Wallemacq, Olivier Vanakker, Anna A.H. Mertens, Michel Hermans, Antoine Bondue, Anne De Leener, Stephane Carlier, Walter Desmet, Pieter Vermeersch, Ernst Rietzschel, Ivan Elegeert, Fabien Chenot, Jean-Louis Vanoverschelde, Emilie Castermans, Christophe Beauloye, Olivier S. Descamps, Antoine De Meester, E. Hoffer, Christophe De Block, Marc J. Claeys, Jean-Luc Balligand, Nicolas Paquot, Attilio Leone, Michel Langlois, Herbert De Raedt, Patrizio Lancellotti

المساهمون: BAS, BSC, RBSLM, Clinical sciences, Vrije Universiteit Brussel, Faculty of Arts and Philosophy, UCL - SSS/IREC/FATH - Pôle de Pharmacologie et thérapeutique, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de pathologie cardiovasculaire, UCL - (SLuc) Service de pathologies cardiovasculaires intensives, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - (SLuc) Service de médecine interne générale, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (MGD) Service de cardiologie

المصدر: Atherosclerosis
Atherosclerosis, 277
Atherosclerosis, Vol. 277, p. 369-376 (2018)

مصطلحات موضوعية: Cardiac & Cardiovascular Systems, Cardiologie et circulation, IMPACT, CHILDREN, Disease, 030204 cardiovascular system & hematology, Workflow, 0302 clinical medicine, Belgium, Risk Factors, Prevalence, CRITERIA, 030212 general & internal medicine, Myocardial infarction, CARDIOLOGY, education.field_of_study, Autosomal dominant lipoprotein disorder, Prognosis, Cardiovascular disease, Phenotype, Cardiovascular Diseases, Critical Pathways, Lipoprotein disorder, Cardiology and Cardiovascular Medicine, Familial hypercholesterolaemia, Life Sciences & Biomedicine, Algorithms, Genetic Markers, Coronary care unit, medicine.medical_specialty, Consensus, Clinical Decision-Making, Population, Cascade screening, DIAGNOSIS, Risk Assessment, Significant elevation, Decision Support Techniques, Hyperlipoproteinemia Type II, 03 medical and health sciences, Predictive Value of Tests, EUROPEAN ATHEROSCLEROSIS SOCIETY, medicine, MANAGEMENT, Humans, Genetic Predisposition to Disease, Low-density lipoprotein cholesterol, Intensive care medicine, education, Alirocumab, Science & Technology, business.industry, Coronary Care Units, ALIROCUMAB, Cholesterol, LDL, medicine.disease, Peripheral Vascular Disease, MYOCARDIAL-INFARCTION, Mutation, Cardiovascular System & Cardiology, Human medicine, business, Biomarkers, GENETIC-DEFECTS

وصف الملف: Print; 2 full-text file(s): application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa7fe6a13da8ba1575f688d75a2eeb4Test
https://lirias.kuleuven.be/handle/123456789/629864Test

المؤلفون: Bernard Grisart, Ann Van Den Bogaert, Sonia Rombout, Julie Désir, Guillaume Smits, Björn Menten, Marie Ravoet, Kris Van Den Bogaert, Olivier Vanakker, Joris Vermeesch, Sandra Janssens, Stéphane Gaillez, Bruno Pichon, Nathalie Van der Aa, Nicole Revencu, Thomy de Ravel, Claude Bandelier, Yves Sznajer, Ann-Cécile Hellin, Anne De Leener, Catherine Staessens, Saskia Bulk, Marjan De Rademaeker, Koen Devriendt, Anne Destree, Bettina Blaumeiser, Katrien Janssens, Annelies Dheedene, F Kooy, Kathelijn Keymolen, Catheline Vilain, Jean-Hubert Caberg

المصدر: European journal of medical genetics

مصطلحات موضوعية: Comparative Genomic Hybridization, Consensus, Prenatal diagnosis, General Medicine, Computational biology, Biology, Bioinformatics, Fetal Diseases, Unknown Significance, Belgium, Pregnancy, Prenatal Diagnosis, Practice Guidelines as Topic, Genetics, Humans, Female, Copy-number variation, Human medicine, Genetics (clinical), Oligonucleotide Array Sequence Analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c360c5a146bf89e41a9b73ed8d5acaTest
https://hdl.handle.net/10067/1172280151162165141Test