المؤلفون: Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Congenital hydrocephalus, Oligogenic inheritance, Exome sequencing, Mutation burden test, Cilia, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7aTest

المؤلفون: Olga Tšuiko, Michiel Vanneste, Cindy Melotte, Jia Ding, Sophie Debrock, Heleen Masset, Maire Peters, Andres Salumets, Anne De Leener, Céline Pirard, Candice Kluyskens, Katleen Hostens, Arne van de Vijver, Karen Peeraer, Ellen Denayer, Joris Robert Vermeesch, Eftychia Dimitriadou

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2056-7944Test

الوصول الحر: https://doaj.org/article/e9f5f60ec26b402fbe70c07f40688395Test

المؤلفون: Christos Dimitriou, Souha Saliba, Xavier Peyrassol, Wafa Ben Abbou, Marie Cécile Nassogne, Carine Neugroschl, Elsa Wiame, Anne De Leener, Marie Cassart

المصدر: Clinical Case Reports, Vol 8, Iss 6, Pp 1010-1014 (2020)

مصطلحات موضوعية: enterolithiasis, metabolic disease, prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/3a5ab8700d8e4fab88e9210dbf60e463Test

المؤلفون: Leonor Palmeira, Lore Lannoo, Anne De Leener, Eva Sammels, Julie Désir, Nathalie Brison, Guillaume Smits, Vincent Bours, Annelies Dheedene, Annelies Fieuw, Kris Van Den Bogaert, Marjan De Rademaeker, Elise Vantroys, Jean-Stéphane Gatot, Laura Bourlard, Vincent Gatinois, Colombine Meunier, Koenraad Devriendt, Armelle Duquenne, François Boemer, Bettina Blaumeiser, Axel Marichal, Katrien Janssens, Joris Vermeesch, Nathalie Fieremans, Bruno Pichon, Yves Sznajer, Björn Menten, Sandra Janssens, Bernard Grisart, Machteld Baetens, Damien Lederer

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Genetics in medicine
Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)

مصطلحات موضوعية: 0301 basic medicine, Down syndrome, medicine.medical_specialty, Noninvasive Prenatal Testing, Population, MEDLINE, Chromosome Disorders, Trisomy, Prenatal care, 030105 genetics & heredity, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genomic medicine, education, Genetics (clinical), education.field_of_study, business.industry, Obstetrics, Incidence (epidemiology), Aneuploidy, medicine.disease, 030104 developmental biology, Prenatal screening, Female, Human medicine, Down Syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4160c358ba3304c89c54ddec000e7f8Test
https://doi.org/10.1038/s41436-021-01101-4Test

المؤلفون: Carine Neugroschl, Elsa Wiame, Souha Saliba, Anne De Leener, Christos Dimitriou, Marie Cassart, Wafa Ben Abbou, Xavier Peyrassol, Marie-Cécile Nassogne

المصدر: Clinical Case Reports, Vol 8, Iss 6, Pp 1010-1014 (2020)
Clinical Case Reports

مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Case Report, Prenatal diagnosis, Case Reports, 030204 cardiovascular system & hematology, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Metabolic disease, Fetus, Mutation, lcsh:R5-920, prenatal diagnosis, business.industry, lcsh:R, Heterozygote advantage, Généralités, General Medicine, medicine.disease, metabolic disease, Lysinuric protein intolerance, 030220 oncology & carcinogenesis, enterolithiasis, business, lcsh:Medicine (General)

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a40ba29cc94370c610a6bb9d84f2095Test
https://doaj.org/article/3a5ab8700d8e4fab88e9210dbf60e463Test

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: Karen Peeraer, Maire Peters, Eftychia Dimitriadou, Katleen Hostens, Michiel Vanneste, Andres Salumets, Sophie Debrock, Joris Vermeesch, Ellen Denayer, Céline Pirard, Heleen Masset, Jia Ding, Anne De Leener, Olga Tšuiko, Arne van de Vijver, Candice Kluyskens, Cindy Melotte

المساهمون: UCL - SSS/IREC/GYNE - Pôle de Gynécologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de gynécologie et d'andrologie

المصدر: NPJ genomic medicine, Vol. 6, no. 1, p. 81 [1-10] (2021)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: SELECTION, Genomic instability, INSTABILITY, Aneuploidy, HUMAN OOCYTES, Biology, QH426-470, Development, Article, EMBRYOS, NUMBER, Meiosis, BLASTOCYSTS, Chromosome instability, medicine, Homologous chromosome, Genetics, Molecular Biology, Genetics (clinical), Genetic testing, Genetics & Heredity, Science & Technology, medicine.diagnostic_test, ABNORMALITIES, Haplotype, Blastomere, medicine.disease, CHROMOSOMAL MOSAICISM, SEGMENTAL ANEUPLOIDIES, WHOLE, embryonic structures, Medicine, Ploidy, Life Sciences & Biomedicine

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92376e8215a1795ef6dd6a3b27f0bee6Test
https://hdl.handle.net/2078.1/261189Test

المؤلفون: Bernard Grisart, Armelle Duquenne, Naïri Khudashvili, Margot van Riel, Eva Sammels, Leonor Palmeira, Elise Vantroys, Leen Vancoillie, Bruno Pichon, Nathalie Brison, Annelies Dheedene, Bettina Blaumeiser, Kris Van Den Bogaert, Katrien Janssens, Sandra Janssens, Axel Marichal, François Boemer, Machteld Baetens, Joris Vermeesch, Ilse Parijs, Yves Sznajer, Jean-Stéphane Gatot, Koenraad Devriendt, Annelies Fieuw, Laura Bourlard, Nathalie Fieremans, Julie Désir, Guillaume Smits, Saskia Bulk, Ellen Roets, Colombine Meunier, Marion Suenaert, Lore Lannoo, Anne De Leener, Lotte Vandeputte

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Centre des maladies neuro-cutanées congénitales

المصدر: Obstetrics and gynecology
Obstetrics and gynecology, Vol. 137, no. 6, p. 1102-1108 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Trisomy 13 Syndrome, Noninvasive Prenatal Testing, Aneuploidy, Trisomy, Sensitivity and Specificity, Multiple Gestation, Pregnancy, Quadruplet, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Amnion, 030212 general & internal medicine, Diagnostic Errors, False Negative Reactions, Twin Pregnancy, Retrospective Studies, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Genome, Human, Obstetrics, business.industry, Obstetrics and Gynecology, Retrospective cohort study, Chorion, Fetal Resorption, Pregnancy, Triplet, medicine.disease, Cohort, Amniocentesis, Pregnancy, Twin, Gestation, Female, Human medicine, Down Syndrome, Pregnancy, Multiple, business, Cell-Free Nucleic Acids, Trisomy 18 Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b528dfdf7f380424bf87e194c5212cbTest
https://hdl.handle.net/10067/1841600151162165141Test

المؤلفون: Anne De Leener, François Duhoux, Martine Berlière, Peter Vuylsteke, Ahmad Merhi, Miikka Vikkula, Isabelle Bar, Cédric van Marcke, Françoise Rothé, Pascal Brouillard, Céline A Schoonjans, Nisha Limaye, Christine Galant, Jean Pascal Machiels, Elsa Khoury, Paul Delrée, Raphaël Helaers, Jean-Luc Canon, Jérôme Ambroise

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'oncologie médicale, UCL - (SLuc) Centre du cancer, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - SSS/DDUV/GEHU - Génétique

المصدر: Breast cancer research : BCR, Vol. 22, no. 1, p. 36 (2020)
Breast cancer research : BCR, Vol. 22, no.1, p. 36 (2020)
Breast Cancer Research : BCR
Breast cancer research, 22 (1
Breast Cancer Research, Vol 22, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Adult, DNA Copy Number Variations, Germline, Mutational signatures, Predisposition, Breast Neoplasms, Biology, medicine.disease_cause, lcsh:RC254-282, Whole Exome Sequencing, 03 medical and health sciences, Breast cancer, 0302 clinical medicine, Germline mutation, Risk Factors, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, CHEK2, Gene, Germ-Line Mutation, Aged, 030304 developmental biology, Genetic testing, BRCA2 Protein, Genetics, 0303 health sciences, Mutation, medicine.diagnostic_test, BRCA1 Protein, Variant of unknown significance, Second hit, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Cancérologie, 030220 oncology & carcinogenesis, Female, Neoplasm Grading, Carcinogenesis, Research Article

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9f3cb847994143a9c1d004b4eb5befTest
https://doi.org/10.1186/s13058-020-01273-yTest