المؤلفون: Marielle B. Plug, Vivian van Wijngaarden, Hester de Wilde, Ellen van Binsbergen, Inge Stegeman, Marie-José H. van den Boogaard, Adriana L. Smit

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: children, genes, developmental language disorder (DLD), diagnostic, genetic etiology, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.651995/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/cdf2bc26287843449e14feb0b677465a

المؤلفون: Marco S. Cune, Annick B. van Nunen, Jamila Ross, Willem M.M. Fennis, Marie-José H. van den Boogaard, Hans-Kristian Ploos van Amstel, Antoine J.W.P. Rosenberg, Lisanne C. Ruigrok, Marijn Créton

المساهمون: Personalized Healthcare Technology (PHT), Digital Healthcare (DH)

المصدر: Oral diseases, 300-307. Wiley
STARTPAGE=300;ENDPAGE=307;ISSN=1354-523X;TITLE=Oral diseases

مصطلحات موضوعية: Abdominal pain, medicine.medical_specialty, Constipation, business.industry, Wnt signaling pathway, LRP6, Oligodontia, Gene mutation, medicine.disease, Inflammatory bowel disease, Gastroenterology, Otorhinolaryngology, Internal medicine, medicine, medicine.symptom, business, General Dentistry, PAX9

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104db9706321c4260f6717b530a6888e
https://doi.org/10.1111/odi.13954

المؤلفون: Aebele B. Mink van der Molen, Johanna M. M. van Breugel, Nard G. Janssen, Ronald J. C. Admiraal, Leon N. A. van Adrichem, Frank Bierenbroodspot, Dirk Bittermann, Marie-José H. van den Boogaard, Pieter H. Broos, Janet J. M. Dijkstra-Putkamer, Martine C. M. van Gemert-Schriks, Andrea L. J. Kortlever, Chantal M. Mouës-Vink, Henriette F. N. Swanenburg de Veye, Nanouk van Tol-Verbeek, Christl Vermeij-Keers, Hester de Wilde, Anne Marie Kuijpers-Jagtman

المصدر: Journal of Clinical Medicine, Vol 10, Iss 21, p 4813 (2021)

مصطلحات موضوعية: cleft lip, alveolus and palate, clinical practice guideline, quality of health care, recommendation clinical care, treatment, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/10/21/4813; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/771df64434cb48bbb9694c42cda4c4bf

المؤلفون: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

المساهمون: Clinical Genetics, Neurosciences

المصدر: Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51a
https://doi.org/10.1126/scitranslmed.abo3189

المؤلفون: Erik Boot, Agnies M. van Eeghen, Cathelijne C. Linders, Marie-José H. van den Boogaard, Sterre H. Tromp

المساهمون: Pediatric surgery

المصدر: Boot, E, Linders, C C, Tromp, S H, van den Boogaard, M-J & van Eeghen, A M 2021, ' Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 3167-3169 . https://doi.org/10.1002/ajmg.a.62380
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics, Part A, 185(10), 3167-3169. Wiley-Liss Inc.

مصطلحات موضوعية: Adult, Male, Genetics, Adolescent, business.industry, Infant, Newborn, Infant, Smith–Magenis syndrome, medicine.disease, Young Adult, Neurodevelopmental Disorders, Child, Preschool, Research Letter, Trans-Activators, medicine, Humans, Female, Genetic Predisposition to Disease, Smith-Magenis Syndrome, Child, business, Genetics (clinical), Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86452a2abd31859ec68bb06f137e600f
https://doi.org/10.1002/ajmg.a.62380

المؤلفون: Janet J M Dijkstra-Putkamer, Anne Marie Kuijpers-Jagtman, Ronald J.C. Admiraal, Christl Vermeij-Keers, Hester de Wilde, Martine C M van Gemert-Schriks, Henriette F. N. Swanenburg de Veye, Frank Bierenbroodspot, Dirk Bittermann, Andrea L J Kortlever, Léon N A Van Adrichem, Johanna M. M. van Breugel, Pieter H Broos, Nanouk van Tol-Verbeek, Chantal M Mouës-Vink, Aebele B. Mink van der Molen, Nard G Janssen, Marie-José H. van den Boogaard

المساهمون: Paediatric Dentistry

المصدر: Journal of Clinical Medicine
Volume 10
Issue 21
Mink van der Molen, Aebele B; van Breugel, Johanna M M; Janssen, Nard G; Admiraal, Ronald J C; van Adrichem, Leon N A; Bierenbroodspot, Frank; Bittermann, Dirk; van den Boogaard, Marie-José H; Broos, Pieter H; Dijkstra-Putkamer, Janet J M; van Gemert-Schriks, Martine C M; Kortlever, Andrea L J; Mouës-Vink, Chantal M; Swanenburg de Veye, Henriette F N; van Tol-Verbeek, Nanouk; Vermeij-Keers, Christl; de Wilde, Hester; Kuijpers-Jagtman, Anne Marie; Kuijpers-Jagtman, Anne Marie (2021). Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary. Journal of clinical medicine, 10(21) MDPI 10.3390/jcm10214813 <http://dx.doi.org/10.3390/jcm10214813>
Journal of Clinical Medicine, Vol 10, Iss 4813, p 4813 (2021)
Journal of Clinical Medicine, 10(21):4813. MDPI AG
Mink van der Molen, A B, van Breugel, J M M, Janssen, N G, Admiraal, R J C, van Adrichem, L N A, Bierenbroodspot, F, Bittermann, D, van den Boogaard, M J H, Broos, P H, Dijkstra-putkamer, J J M, van Gemert-Schriks, M C M, Kortlever, A L J, Mouës-vink, C M, Swanenburg de Veye, H F N, van Tol-Verbeek, N, Vermeij-keers, C, de Wilde, H & Kuijpers-jagtman, A M 2021, ' Clinical practice guidelines on the treatment of patients with cleft lip, alveolus, and palate : An executive summary ', Journal of Clinical Medicine, vol. 10, no. 21, 4813, pp. 1-14 . https://doi.org/10.3390/jcm10214813
Journal of Clinical Medicine, 10(21):4813, 1-14. MDPI AG

مصطلحات موضوعية: medicine.medical_specialty, Recommendation clinical care, medicine.medical_treatment, recommendation clinical care, Cleft lip, alveolus and palate, MEDLINE, 610 Medicine & health, Cochrane Library, Article, Rhinoplasty, quality of health care, Multidisciplinary approach, medicine, Genetic testing, Clinical practice guideline, Executive summary, medicine.diagnostic_test, treatment, business.industry, Cleft lip, SDG 10 - Reduced Inequalities, General Medicine, alveolus and palate, Treatment, Family medicine, Inclusion and exclusion criteria, Quality of health care, Medicine, cleft lip, alveolus and palate, business, Psychosocial, clinical practice guideline

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493899fdd6ba18a39db1afa3c8de7b97

المؤلفون: Daan Pieter Frederik Van Nunen, Marie-José H. Van den Boogaard, J. Peter W. eDon Griot, Mike eRüttermann, Lars TJ Van der Veken, Corstiaan eBreugem

المصدر: Frontiers in Surgery, Vol 1 (2014)

مصطلحات موضوعية: Cleft Lip, Cleft Palate, Epidemiology, Infant Mortality, Netherlands, Pierre Robin Syndrome, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fsurg.2014.00048/full; https://doaj.org/toc/2296-875X

URL الوصول: https://doaj.org/article/66bdd33a294946ff98d591ec2fb9f160

المؤلفون: Paulien A Terhal, Rosa Pettinato, Jessica Jackson, Maria J. Guillen Sacoto, R. Frank Kooy, Rolph Pfundt, Grace E. VanNoy, Asbjørg Stray-Pedersen, Elizabeth Judd, Tuula Rinne, Rhonda E. Schnur, Marie José H. Van Den Boogaard, Jolien S. Klein Wassink-Ruiter, Paldeep S. Atwal, David A. Sweetser, Ilse J. Anderson, Jessica L. Waxler, Ilse M. van der Werf, Kristian Tveten, Alexander P.A. Stegmann, Petra de Vries, Alexandra Afenjar, Lisenka E.L.M. Vissers, Anke Van Dijck, Sonja A. de Munnik, Anthonie J. van Essen, Ivan Iossifov, Marcia C. Willing, Charu Kaiwar, Charlotte W. Ockeloen, Joris A. Veltman, Mieke M. van Haelst, Diane Doummar, Sandra Jansen, Marije Meuwissen, Eric W. Klee, Pankaj B. Agrawal, Ellen van Binsbergen, Bert B.A. de Vries, Victoria R. Sanders, A. Micheil Innes, Kristin G. Monaghan, Hilary Racher, Corrado Romano, Zeynep Coban-Akdemir, Albertien M. van Eerde, Eric J. Smeets, Caroline Nava, Lucia Castiglia, Boris Keren, Koen L.I. van Gassen

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: European Journal of Human Genetics, 27(5), 738. Nature Publishing Group
European Journal of Human Genetics, 27(5), 738-746. Nature Publishing Group
European journal of human genetics
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, ' De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746 . https://doi.org/10.1038/s41431-018-0292-2
Eur J Hum Genet
European Journal of Human Genetics, 27, 5, pp. 738-746
European Journal of Human Genetics, 27, 738-746

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, media_common.quotation_subject, Nonsense, Biology, PHENOTYPE, Article, DNA sequencing, Frameshift mutation, GENEMATCHER, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, E3, Intellectual Disability, Intellectual disability, Genetics, medicine, Journal Article, UBIQUITIN LIGASES, Missense mutation, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), media_common, 0303 health sciences, Behavior, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, MUTATIONS, F-Box Proteins, 030305 genetics & heredity, Genetic Variation, Syndrome, medicine.disease, GENE, CANCER, Hypotonia, FAMILY, Chemistry, Autism spectrum disorder, Human medicine, medicine.symptom, Abnormalities, Multiple, Gene Deletion, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: text/plain; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d0896a48e7dddd27391d52908cefac
https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4

المؤلفون: Kaare Christensen, Marie José H. Van Den Boogaard, Volker Dötsch, Ozan Topaloglu, Alexander Hoischen, Kriti D. Khandelwal, Jakob Gebel, Ellen van Beusekom, Nel Roeleveld, Elisabeth Mangold, Sarah L. Mehrem, Christian Gilissen, Joseph Schoenaers, Koen Devriendt, Greet Hens, Stefaan J. Bergé, Iris A.L.M. van Rooij, Jeffrey C. Murray, Hans van Bokhoven, Marloes Steehouwer, Carine Carels, Kerstin U. Ludwig, Ellen van Binsbergen, Nina Ishorst, Christina Fagerberg, Huiqing Zhou

المصدر: Eur J Hum Genet
European Journal of Human Genetics, 27, 7, pp. 1101-1112
European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group
European Journal of Human Genetics, 27, 1101-1112
Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0

مصطلحات موضوعية: Adult, Male, Cleft Lip, Population, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Mutation, Missense, Biology, Article, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Frameshift mutation, Cohort Studies, 03 medical and health sciences, Loss of Function Mutation, TP63, Genetics, Humans, Missense mutation, Genetics(clinical), Copy-number variation, Allele, education, Alleles, Genetics (clinical), Loss function, Sequence Deletion, 0303 health sciences, education.field_of_study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Tumor Suppressor Proteins, 030305 genetics & heredity, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Penetrance, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Cleft Palate, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Amino Acid Substitution, Female, Molecular Developmental Biology, Transcription Factors

وصف الملف: image/pdf; text/plain; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44198c7b36e97338ab20c66dff622293
https://doi.org/10.1038/s41431-019-0370-0

المؤلفون: Marco S. Cune, Jamila Ross, Willem M.M. Fennis, Annick B. van Nunen, Hans-Kristian Ploos van Amstel, Antoine J.W.P. Rosenberg, Marie-José H. van den Boogaard, Lisanne C. Ruigrok, Marijn Créton

مصطلحات موضوعية: business.industry, Wnt signaling pathway, Cancer research, Medicine, In patient, Oligodontia, Gene mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee6c4672efcaba10d899bedadf2de2a1
https://doi.org/10.1111/odi.13954/v2/response1