المؤلفون: Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Rare disease, Genome sequencing, Impact modeling, Reducing workflow complexity, Genetic diagnostic laboratories, Germline variant detection, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77Test

المؤلفون: Guido M. J. M. Roemen, Tom E. J. Theunissen, Ward W. J. Hoezen, Anja R. M. Steyls, Aimee D. C. Paulussen, Klara Mosterd, Elisa Rahikkala, Axel zur Hausen, Ernst Jan M. Speel, Michel van Geel

المصدر: Biomedicines, Vol 12, Iss 2, p 330 (2024)

مصطلحات موضوعية: basal cell nevus syndrome (BCNS), PTCH1, MLPA, ddPCR, mosaicism, mosaic, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9059/12/2/330Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/d2c6192bca874065a69437e13b87606aTest

المؤلفون: Rick Kamps, Rita D. Brandão, Bianca J. van den Bosch, Aimee D. C. Paulussen, Sofia Xanthoulea, Marinus J. Blok, Andrea Romano

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 2, p 308 (2017)

مصطلحات موضوعية: next-generation sequencing, whole-exome-sequencing, whole-genome-sequencing, gene-panel, inherited cancer syndrome, cancer somatic mutation, diagnostics, genetic modifiers, theranostics, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1422-0067/18/2/308Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/471024d0682541bdbb8e44c2c906de0cTest

المؤلفون: Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers

مصطلحات موضوعية: Genetics, Rare disease, Genome sequencing, Impact modeling, Reducing workflow complexity, Genetic diagnostic laboratories, Germline variant detection

العلاقة: https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25223383.v1Test
https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383Test

المؤلفون: N Chantal Peltenburg, Jörgen Bierau, Jaap A Bakker, Jolanda A Schippers, Selwyn H Lowe, Aimée D C Paulussen, Bianca J C van den Bosch, Mathie P G Leers, Bettina E Hansen, Annelies Verbon

المصدر: PLoS ONE, Vol 13, Iss 1, p e0191069 (2018)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC5766130?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/830f603febab47ee816ac4e1156ed1d3Test

الإتاحة: https://doi.org/10.1371/journal.pone.0191069Test
https://doaj.org/article/830f603febab47ee816ac4e1156ed1d3Test

المؤلفون: Helger G. Yntema, Christine E. M. de Die-Smulders, Suzanne C E H Sallevelt, Alexander P.A. Stegmann, Han G. Brunner, Bart de Koning, Melanie van Esch, Crool Velter, Masoud Zamani Esteki, Anja Steyls, Arthur van den Wijngaard, Aimee D C Paulussen, Phillis Lakeman, Christian Gilissen

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

المصدر: Genetics in Medicine
Genetics in medicine, 23(6), 1125-1136. Lippincott Williams and Wilkins
Genetics in Medicine, 23(6), 1125-1136. Nature Publishing Group
Genetics in Medicine, 23, 6, pp. 1125-1136
Genetics in Medicine, 23, 1125-1136

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Heterozygote, Offspring, Genomics, 030105 genetics & heredity, Carrier testing, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Exome Sequencing, medicine, Exome, Family, Genetics (clinical), Exome sequencing, 030219 obstetrics & reproductive medicine, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Molecular pathology, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Clinical Practice, Medical genetics, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a927a2a11ccba3be308c20e5c7dee9b8Test
http://www.scopus.com/inward/record.url?scp=85103014652&partnerID=8YFLogxKTest

المؤلفون: Christine E. M. de Die-Smulders, Klaske D. Lichtenbelt, A. Titia Lely, Jos Dreesen, Franka E. van Reekum, Cindy E. Simcox, Theodora C. van Tilborg, Rozemarijn Snoek, Marijn Stokman, Albertien M. van Eerde, Nine V A M Knoers, Aimee D C Paulussen

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

المصدر: Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 15(9), 1279-1286. American Society of Nephrology
Clinical Journal of the American Society of Nephrology, 15(9), 1279-1286. AMER SOC NEPHROLOGY

مصطلحات موضوعية: ESHRE PGD, Male, Pediatrics, Epidemiology, 030232 urology & nephrology, Nephritis, Hereditary, Reproductive technology, Disease, Critical Care and Intensive Care Medicine, 0302 clinical medicine, MARKERS, Pregnancy, Risk Factors, Netherlands, RISK, OUTCOMES, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, genetic renal disease, Polycystic Kidney, Autosomal Dominant, Autosomal Recessive Polycystic Kidney Disease, FAMILY, Nephrology, Female, Kidney Diseases, Live birth, Adult, medicine.medical_specialty, Reproductive Techniques, Assisted, BIRTH, Autosomal dominant polycystic kidney disease, Genetic Counseling, DIAGNOSIS, Young Adult, 03 medical and health sciences, Predictive Value of Tests, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Preimplantation Diagnosis, ADPKD, Polycystic Kidney, Autosomal Recessive, Retrospective Studies, Genetic testing, Transplantation, MEDICINE, business.industry, Editorials, Retrospective cohort study, Original Articles, medicine.disease, Mutation, business, Alport syndrome, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca4885d740a385f10d8ec66a99a3cf5Test
https://doi.org/10.2215/cjn.03550320Test

المؤلفون: Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten

المصدر: Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY

مصطلحات موضوعية: Male, Multifactorial Inheritance, Reproductive counseling, Disease, Bioinformatics, Severity of Illness Index, Inheritance Patterns, Medicine, Facioscapulohumeral muscular dystrophy, genetics, D4Z4 REPEAT, Genetics (clinical), REARRANGEMENTS, Pregnancy Outcome, WOMEN, Disease Management, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Penetrance, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Female, pregnancy, delivery, preimplantation genetic testing, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, SOMATIC MOSAICISM, Clinical Decision-Making, facioscapulohumeral muscular dystrophy, Genetic Counseling, Prenatal diagnosis, DIAGNOSIS, Preimplantation genetic diagnosis, REGION, Diagnosis, Differential, NEUROMUSCULAR DISORDERS, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, FSHD, Pregnancy, prenatal diagnosis, SMCHD1, business.industry, medicine.disease, Pregnancy Complications, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70eaTest
http://hdl.handle.net/2066/248860Test

المؤلفون: U.A. Badrising, Karlien Mul, Saskia Lassche, Nienke van der Stoep, Baziel G.M. van Engelen, Christine E. M. de Die-Smulders, Olivier W.H. van der Heijden, Sanne C. C. Vincenten, Marjolein Kriek, Nicol C. Voermans, Aimee D C Paulussen

مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, medicine, Reproductive counseling, Facioscapulohumeral muscular dystrophy, Disease, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::35d88db16b1ea137dde9a476772fa7adTest
https://doi.org/10.1111/cge.14031/v2/response1Test

المؤلفون: V. van der Schoot, Aimee D C Paulussen, G. de Wert, Edith Coonen, C. E. M. De Die-Smulders, Joseph C F M Dreesen, Wybo Dondorp

المساهمون: MUMC+: DA KG Polikliniek (9), Metamedica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Obstetrie & Gynaecologie, MUMC+: VMK IVF Lab (9), Klinische Genetica

المصدر: Human Reproduction, 34(6), 1146-1154. Oxford University Press

مصطلحات موضوعية: Counseling, medicine.medical_specialty, media_common.quotation_subject, Fertilization in Vitro, combination PGT, DIAGNOSIS, Genetic Condition, Preimplantation genetic diagnosis, Choice Behavior, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Pregnancy, ESHRE PGD CONSORTIUM, medicine, Humans, Quality (business), Genetic Testing, Prospective Studies, Duration (project management), Preimplantation Diagnosis, Netherlands, Retrospective Studies, Genetic testing, media_common, Ivf treatment, Fertility Clinics, indications, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Rehabilitation, Genetic Diseases, Inborn, Obstetrics and Gynecology, Embryo Transfer, ethics, transfer decisions, Reproductive Medicine, PRACTICE GUIDELINES, Family medicine, Practice Guidelines as Topic, Quality of Life, Female, Long term safety, preimplantation genetic testing, Psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a8c081aa097dbf865744dcfd3447aafTest
https://doi.org/10.1093/humrep/dez059Test