المؤلفون: Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/27a339f2ae754c6ab22930007a45ad79

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

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77

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

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

URL الوصول: https://doaj.org/article/d2c6192bca874065a69437e13b87606a

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

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383

الاتاحة: https://doi.org/10.6084/m9.figshare.25223383.v1
https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383

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

Relation: http://europepmc.org/articles/PMC5766130?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/830f603febab47ee816ac4e1156ed1d3

الاتاحة: https://doi.org/10.1371/journal.pone.0191069
https://doaj.org/article/830f603febab47ee816ac4e1156ed1d3

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a927a2a11ccba3be308c20e5c7dee9b8
http://www.scopus.com/inward/record.url?scp=85103014652&partnerID=8YFLogxK

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

Relation: http://www.mdpi.com/1422-0067/18/2/308; https://doaj.org/toc/1422-0067; https://doaj.org/article/471024d0682541bdbb8e44c2c906de0c

الاتاحة: https://doi.org/10.3390/ijms18020308
https://doaj.org/article/471024d0682541bdbb8e44c2c906de0c

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca4885d740a385f10d8ec66a99a3cf5
https://doi.org/10.2215/cjn.03550320

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70ea
http://hdl.handle.net/2066/248860

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a8c081aa097dbf865744dcfd3447aaf
https://doi.org/10.1093/humrep/dez059

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35d88db16b1ea137dde9a476772fa7ad
https://doi.org/10.1111/cge.14031/v2/response1

المؤلفون: Gaby Schobers, Arthur van den Wijngaard, Guido de Wert, Han G. Brunner, Merryn V. E. Macville, Servi J. C. Stevens, Dominique Pellaers, Masoud Zamani Esteki, Christine E. M. de Die-Smulders, Aimee D C Paulussen, Rebekka Koeck, Edith Coonen

المصدر: Human Reproduction, 36, 11, pp. 2824-2839
Human Reproduction, 36, 2824-2839
Human Reproduction (Oxford, England)
Human Reprouction

مصطلحات موضوعية: medicine.medical_specialty, GENOMIC DNA, MITOCHONDRIAL-DNA, Biopsy, Mini Review, Reproductive medicine, circulating cells, spent embryo culture medium, cell-free DNA, Neoplasms, NONINVASIVE PRENATAL-DIAGNOSIS, Biomarkers, Tumor, Medicine, Humans, Sampling (medicine), Medical physics, Liquid biopsy, MATERNAL PLASMA, GENE-EXPRESSION, non-invasive prenatal testing, next generation sequencing, Tumor, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], liquid biopsy, business.industry, Rehabilitation, INCIDENTAL DETECTION, Obstetrics and Gynecology, EMBRYO CULTURE-MEDIUM, artificial intelligence, AcademicSubjects/MED00905, CIRCULATING TUMOR-CELLS, FREE FETAL DNA, Reproductive Medicine, IVF, business, preimplantation genetic testing, Cell-Free Nucleic Acids, Biomarkers, ART

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6caff1ae47c402d917e5aafdf3eab5
https://doi.org/10.1093/humrep/deab206

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

المصدر: Nephrology Dialysis Transplantation. 35

مصطلحات موضوعية: Transplantation, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Nephrology, business.industry, medicine, medicine.disease, business, Genetic testing, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d74f8d58c50ef496df85fd7eaf8dbcb
https://doi.org/10.1093/ndt/gfaa142.p0050

المؤلفون: Jörgen Bierau, Jaap A Bakker, Jolanda A Schippers, Janine A C Grashorn, Martijn Lindhout, Selwyn H Lowe, Aimée D C Paulussen, Annelies Verbon

المصدر: PLoS ONE, Vol 7, Iss 1, p e30175 (2012)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3260219?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/84acb0eaa36949f8ad76fda9017aa144

الاتاحة: https://doi.org/10.1371/journal.pone.0030175
https://doaj.org/article/84acb0eaa36949f8ad76fda9017aa144

المؤلفون: Aimee D C Paulussen, Christine E. M. de Die-Smulders, N. D. Muntjewerff, Frank J.M. Broekmans, Marieke van Deursen-Luijten, John J.M. Engelen, Yvonne Arens, Jos Dreesen, M. Meijer-Hoogeveen, Aafke P.A. van Montfoort, Malou Heijligers, Edith Coonen, Mark A. H. B. M. van der Hoeven, Katelijne Bouman, Ron J. T. van Golde, I. Homminga, Andrea Peeters, Vyne van der Schoot

المساهمون: MUMC+: KIO Kemta (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Obstetrie & Gynaecologie, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Klinische Genetica, MUMC+: VMK IVF Lab (9), MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. Springer
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. SPRINGER/PLENUM PUBLISHERS

مصطلحات موضوعية: Male, Time Factors, Abortion, 0302 clinical medicine, Pregnancy, Prospective Studies, 030212 general & internal medicine, Assisted Reproduction Technologies, Child, Children, Genetics (clinical), Congenital malformations, OUTCOMES, 030219 obstetrics & reproductive medicine, NEWBORNS, Obstetrics, Follow-up, Incidence (epidemiology), Preimplantation genetic diagnosis, Obstetrics and Gynecology, General Medicine, Perinatal Care, Gestation, Female, MISDIAGNOSIS, medicine.symptom, Adult, medicine.medical_specialty, Birth weight, Reproductive medicine, Congenital Abnormalities, 03 medical and health sciences, ESHRE PGD CONSORTIUM, PREGNANCIES, Genetics, medicine, Humans, Genetic Testing, Diagnostic Errors, Preimplantation Diagnosis, METAANALYSIS, Fetus, ANEUPLOIDY, business.industry, Infant, Newborn, Perinatal outcome, BLASTOMERE, BIRTH-WEIGHT, Low birth weight, Reproductive Medicine, HUMAN EMBRYOS, business, Follow-Up Studies, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956cfd64a30574159d35b8d8948b4e64
https://doi.org/10.1007/s10815-018-1286-2

المؤلفون: Hannele Koillinen, Marieke G H C Reinders, Michel van Geel, Robbert-Jan C A M Gielen, Klara Mosterd, Aimee D C Paulussen

المساهمون: RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Dermatologie, Promovendi ODB, MUMC+: MA Dermatologie (9), MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Journal of Human Genetics, 63(9), 965-969. Nature Publishing Group

مصطلحات موضوعية: Male, 0301 basic medicine, Gene isoform, endocrine system, Skin Neoplasms, Basal Cell Nevus Syndrome, PROTEIN, Human skin, Biology, 03 medical and health sciences, Germline mutation, Genetics, Humans, Protein Isoforms, TUMOR-SUPPRESSOR, Child, Gene, Germ-Line Mutation, Genetics (clinical), Regulation of gene expression, 1ST EXONS, PTCH1 Gene, Molecular biology, GENE, Gene Expression Regulation, Neoplastic, Patched-1 Receptor, 030104 developmental biology, PTCH1, PATCHED1, CARCINOMA SYNDROME

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1aa1a9054acc6f21baefae3fe62fa6d
https://doi.org/10.1038/s10038-018-0485-0

المؤلفون: Joseph C F M Dreesen, Hubert J.M. Smeets, Christine E. M. de Die-Smulders, Suzanne C E H Sallevelt, Edith Coonen, Debby M.E.I. Hellebrekers, Aimee D C Paulussen, Patrick J. Lindsey

المساهمون: Promovendi CD, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Obstetrie & Gynaecologie, MUMC+: VMK IVF Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, RS: FHML MaCSBio, RS: CARIM - R2.10 - Mitochondrial disease, Complexe Genetica

المصدر: Journal of Medical Genetics, 54(10), 693-697. BMJ Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Blastomeres, Heterozygote, DISORDERS, Biopsy, Prenatal diagnosis, Biology, Preimplantation genetic diagnosis, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, EMBRYOGENESIS, Humans, SEGREGATION, Genetic Testing, Diagnostic Errors, PRENATAL-DIAGNOSIS, LACTIC-ACIDOSIS, Genetics (clinical), Preimplantation Diagnosis, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, HUMAN EMBRYOFETAL DEVELOPMENT, Embryo, Blastomere, Heteroplasmy, 030104 developmental biology, Blastocyst, MTDNA MUTATION, Mutation (genetic algorithm), Mutation, Female, EMBRYONIC STEM-CELLS, LEIGH-SYNDROME, STROKE-LIKE SYNDROME

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38446b19e9deaef4d96eb75014e9434c
https://doi.org/10.1136/jmedgenet-2017-104633

المؤلفون: Henri J. Boersma, P.M. Steijlen, M. van Geel, Guido M.J.M. Roemen, Aimee H.M.M. Arits, M.G.H.C. Reinders, Ernst-Jan M. Speel, Maaike Vreeburg, Aimee D C Paulussen, E.M. Leter, Klara Mosterd

المساهمون: RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Promovendi ODB, Dermatologie, MUMC+: MA Dermatologie (9), MUMC+: KIO Innovatie (9), Promovendi PHPC, Health Services Research, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Pathologie, RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: MA Dermatologie (3), MUMC+: MA AIOS Dermatologie (9)

المصدر: British Journal of Dermatology, 177(1), 249-252. Wiley

مصطلحات موضوعية: 0301 basic medicine, Genetics, Pathology, medicine.medical_specialty, MUTATIONS, Genetic counseling, Germline mosaicism, Dermatology, PTCH1 Gene, 030105 genetics & heredity, Biology, HUMAN HOMOLOG, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, PTCH1, GORLIN-SYNDROME, Mutation (genetic algorithm), medicine, Restriction fragment length polymorphism, Gene, CARCINOMA SYNDROME

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53dd37fb9acee00eefb3b67de0e60370
https://doi.org/10.1111/bjd.15082

المؤلفون: Aimee D C Paulussen, Suzanne C E H Sallevelt, Bart de Koning, Christine E. M. de Die-Smulders, Radek Szklarczyk, Hubert J.M. Smeets

المساهمون: Promovendi CD, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Complexe Genetica, RS: FHML MaCSBio, RS: CARIM - R2.10 - Mitochondrial disease

المصدر: Genetics in Medicine, 19(5), 583-592. Nature Publishing Group

مصطلحات موضوعية: Male, Parents, 0301 basic medicine, Population, Genetic Carrier Screening, PROTEIN, Consanguinity, 030105 genetics & heredity, VARIANTS, ATROPHY, 03 medical and health sciences, Genes, X-Linked, Exome Sequencing, Humans, Mutation type, Medicine, whole-exome sequencing, education, Exome, Genetics (clinical), Exome sequencing, POPULATION, A645D, COUPLES, Genetics, education.field_of_study, business.industry, MUTATIONS, 030104 developmental biology, Mutation, Mutation (genetic algorithm), preconception carrier screening, Female, business, Carrier screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502e3b0f587f29e9ef7feda92d56f82f
https://doi.org/10.1038/gim.2016.153

المؤلفون: Christine E. M. de Die-Smulders, Joseph C F M Dreesen, Maria Cristina Magli, Joep P.M. Geraedts, Marion Drüsedau, Suzanne C E H Sallevelt, Ronald J T van Golde, Aimee D C Paulussen, Massimo Zeviani, Luca Gianaroli, Debby M.E.I. Hellebrekers, Edith Coonen, Hubert J.M. Smeets

المساهمون: Promovendi CD, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Obstetrie & Gynaecologie, MUMC+: VMK IVF Lab (9), MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, RS: FHML MaCSBio, RS: CARIM - R2.10 - Mitochondrial disease

المصدر: Human Reproduction, 32(3), 698-703. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.disease_cause, mitochondrial DNA (mtDNA) mutation, 0302 clinical medicine, Pregnancy, Genetics, PGD, Mutation, Rehabilitation, Obstetrics and Gynecology, respiratory system, Mitochondrial, Mitochondria, Pedigree, Treatment Outcome, lipids (amino acids, peptides, and proteins), Female, MT-ND6, Leigh Disease, LEIGH-SYNDROME, ND6 GENE, Mitochondrial DNA, PREIMPLANTATION GENETIC DIAGNOSIS, DISORDERS, MTDNA MUTATIONS, M.14487T-GREATER-THAN-C, Leigh syndrome, Mitochondrial DNA (mtDNA) mutation, T14487C, DNA, Mitochondrial, Humans, Infant, Newborn, Preimplantation Diagnosis, Biology, Preimplantation genetic diagnosis, PATIENT, 03 medical and health sciences, medicine, SEGREGATION, Leigh disease, Gene, Infant, nutritional and metabolic diseases, DNA, Blastomere, T14487C MUTATION, Newborn, medicine.disease, Mtdna mutations, 030104 developmental biology, Reproductive Medicine, COMPLEX-I DEFICIENCY, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f190348750a9d5b41882b5e7e6c79891
https://doi.org/10.1093/humrep/dew356