المؤلفون: Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee

المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 46-51 (2017)

مصطلحات موضوعية: Lysosomal storage disorders, Lysosomal disorders, Whole exome sequencing, Inborn errors of metabolism, Undiagnosed diseases, Rare diseases, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426917301209Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d26ea23ea17a48b6a33115ca1f65c5e9Test

المؤلفون: Charu Kaiwar, Sarah K. Macklin, Jennifer M. Gass, Jessica Jackson, Eric W. Klee, Stephanie L. Hines, John A. Stauffer, Paldeep S. Atwal

المصدر: Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-4 (2017)

مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13053-017-0070-0Test; https://doaj.org/toc/1897-4287Test

الوصول الحر: https://doaj.org/article/d66067cc9d5a492384427c1288b50036Test

المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga

المصدر: Genetics in Medicine. 25:100359

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04aTest
https://doi.org/10.1016/j.gim.2022.12.006Test

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/s41431-018-0292-2Test
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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d0896a48e7dddd27391d52908cefacTest
https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4Test

المؤلفون: Eric W. Klee, Dusica Babovic-Vuksanovic, Brendan C. Lanpher, Filippo Vairo, Pavel N. Pichurin, Nicole J. Boczek, Konstantinos N. Lazaridis, Charu Kaiwar, Ralitza H. Gavrilova, Margot A. Cousin, Erin Conboy, Patrick R. Blackburn

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 46-51 (2017)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, KCTD7, Inborn errors of metabolism, Lysosomal storage disorders, LRBA, 03 medical and health sciences, Endocrinology, Internal medicine, Lysosome, Genetics, medicine, lcsh:QH301-705.5, Molecular Biology, Exome sequencing, lcsh:R5-920, Newborn screening, business.industry, Incidence (epidemiology), Whole exome sequencing, Lysosomal disorders, Rare diseases, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), Cohort, Undiagnosed diseases, Personalized medicine, lcsh:Medicine (General), business, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d308e3d3cfe33f7e18a1ad3d1f11e5Test
https://doi.org/10.1016/j.ymgmr.2017.08.001Test

المؤلفون: Stephanie L. Hines, John A. Stauffer, Charu Kaiwar, Eric W. Klee, Jessica Jackson, Sarah Macklin, Paldeep S. Atwal, Jennifer Gass

المصدر: Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-4 (2017)
Hereditary Cancer in Clinical Practice

مصطلحات موضوعية: Pathology, medicine.medical_specialty, endocrine system, endocrine system diseases, lcsh:QH426-470, Case Report, 030209 endocrinology & metabolism, Asymptomatic, lcsh:RC254-282, 03 medical and health sciences, 0302 clinical medicine, medicine, MEN1, Family history, Multiple endocrine neoplasia, Genetics (clinical), Hyperparathyroidism, business.industry, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Penetrance, lcsh:Genetics, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, medicine.symptom, Pancreas, business, Primary hyperparathyroidism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d1d4c8e9eef17cc25f86019a3c4b61Test
http://link.springer.com/article/10.1186/s13053-017-0070-0Test

المؤلفون: Konstantinos N. Lazaridis, Charu Kaiwar, Tammy M. McAllister, Eric W. Klee

المصدر: Expert Review of Precision Medicine and Drug Development. 2:91-98

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, medicine.diagnostic_test, business.industry, 030105 genetics & heredity, Bioinformatics, Data science, Clinical Practice, 03 medical and health sciences, 030104 developmental biology, Prenatal screening, Pharmacogenomics, Drug Discovery, Health care, Private knowledge, Genetics, medicine, Molecular Medicine, Genomic medicine, Return of results, business, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::400ca5a4ae071ddcaceef7a69aaeef25Test
https://doi.org/10.1080/23808993.2017.1322898Test

المؤلفون: Joel A. Morales-Rosado, Radhika Dhamija, Charu Kaiwar, Eric W. Klee, Benn E. Smith

المصدر: American journal of medical genetics. Part A. 176(12)

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Heterozygote, 03 medical and health sciences, Intellectual disability, Myasthenia Gravis, Exome Sequencing, Genetics, Medicine, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, YY1 Transcription Factor, Zinc finger, Chromosome Aberrations, business.industry, YY1, Learning Disabilities, Facies, Syndrome, Congenital myasthenic syndrome, medicine.disease, Myasthenia gravis, 030104 developmental biology, Phenotype, Medical genetics, Female, Radiography, Thoracic, business, Tomography, X-Ray Computed, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8667fcd1e585a241cdb6128d2c9c0d08Test
https://pubmed.ncbi.nlm.nih.gov/30549423Test

المؤلفون: Jennifer L. Kemppainen, Eric W. Klee, Alejandro Ferrer, Charu Kaiwar, Ralitza H. Gavrilova, Laura Schultz-Rogers

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Ectodermal dysplasia, Filaggrin Proteins, Exome, Family history, Exome sequencing, high forehead, Comparative Genomic Hybridization, medicine.diagnostic_test, abnormality of the eyebrow, perioral eczema, General Medicine, Pedigree, joint laxity, attention deficit hyperactivity disorder, Phenotype, depressed nasal bridge, Speech delay, Female, medicine.symptom, Rapid Communication, narrow mouth, Heterozygote, medicine.medical_specialty, Adolescent, autism, abnormality of the eyelashes, thoracic scoliosis, Rare Diseases, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Genetic Association Studies, Genetic testing, business.industry, cervical ribs, medicine.disease, Dermatology, short stature, Hypodontia, prominent epicanthal folds, Mutation, hypodontia, thickened ears, dry skin, central hypotonia, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c330cd44351d7232d4f9d22bcc0b58Test
https://doi.org/10.1101/mcs.a004390Test

المؤلفون: Teresa M. Kruisselbrink, Pavel N. Pichurin, Eric W. Klee, Charu Kaiwar, Yogish C. Kudva

المصدر: Clinical immunology (Orlando, Fla.). 207

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Immunology, KMT2D gene, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Immunology and Allergy, Medicine, Humans, Abnormalities, Multiple, Exome sequencing, business.industry, medicine.disease, Phenotype, Hematologic Diseases, Hodgkin Disease, Epidural lipomatosis, 030104 developmental biology, Vestibular Diseases, Male patient, Face, Hodgkin lymphoma, business, Kabuki syndrome, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93b57423b51b4c6cc646eb6451ab170dTest
https://pubmed.ncbi.nlm.nih.gov/30282051Test