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1دورية أكاديمية
المؤلفون: Khaled Atmar, Claudia A. L. Ruivenkamp, Louise Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, Arjan C. Lankester, Marije Bartels, Gijs W. E. Santen, Frans J. Smiers, Mirjam van der Burg, Alexander B. Mohseny
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: bone marrow failure, BMF, aplastic anemia, AA, cytopenia, next-generation sequencing, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek
المصدر: Molecular Brain, Vol 14, Iss 1, Pp 1-4 (2021)
مصطلحات موضوعية: Writer’s cramp, Focal dystonia, CACNA1H, Rare variants, Structural and functional analysis, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-6606
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المؤلفون: Ivana A. Souza, Miaozhen Huang, Fang-Xiong Zhang, Richard J. Sinke, Tjerk J. Lagrand, Dineke S. Verbeek, Johannes H. T. M. Koelman, Marina A. J. Tijssen, Gerald W. Zamponi, Justus L. Groen, Maria A. Gandini, Noam Adir, Esther A. R. Nibbeling
المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, Movement Disorder (MD), Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: Molecular Brain, Vol 14, Iss 1, Pp 1-4 (2021)
Molecular Brain
Molecular Brain, 14(1):18. BioMed Central Ltd.
Molecular brain, 14(1):18, 1-4. BMC
Molecular Brain, 14(1). BMCمصطلحات موضوعية: Male, Candidate gene, Mutation, Missense, lcsh:RC346-429, Micro Report, Calcium Channels, T-Type, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Structural and functional analysis, Chromosome Segregation, medicine, CACNA1H, Humans, Missense mutation, Genetic Predisposition to Disease, Molecular Biology, Gene, Exome sequencing, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Dystonia, Genetics, 0303 health sciences, biology, Writer's cramp, Rare variants, Focal dystonia, medicine.disease, Pedigree, Writer’s cramp, Phenotype, Dystonic Disorders, biology.protein, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Monique C. Haak, Tamara T. Koopmann, Esther A. R. Nibbeling, Emmelien Aten, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Phebe N. Adama van Scheltema, Nicolette S. den Hollander, Cacha M.P.C.D. Peeters-Scholte, Maayke A. de Koning, Mariëtte J.V. Hoffer
المصدر: Genetics in Medicine, 21(10), 2303-2310. NATURE PUBLISHING GROUP
مصطلحات موضوعية: medicine.medical_specialty, Genetic Counseling, Pilot Projects, Context (language use), Ultrasonography, Prenatal, parental counseling, Fetus, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Exome, fetal anomalies, Routine care, Genetics (clinical), Exome sequencing, Retrospective Studies, business.industry, Obstetrics, medicine.disease, Late pregnancy, body regions, perinatal management, Female, business, exome sequencing, clinical impact, human activities
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المؤلفون: Regina Bökenkamp-Gramann, Daniela Q.C.M. Barge-Schaapveld, Monique Williams, Julie W. Rutten, Karin van der Tuin, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Sylke J. Steggerda, Laura Donker Kaat, Dietje E. Fransen van de Putte, Remco van Doorn, Marjolein Kriek, Ruben S G M Witlox, Maartje van Rij, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Thomas P. Potjer, Emilia K. Bijlsma, Setareh Moghadasi, Yvette van Ierland, Manon Suerink, Emmelien Aten, Gijs W. E. Santen, Remco Visser, Anne Sophie van der Werf–t Lam, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Ratna N G B Tan, Nicolette S. den Hollander, Arend D. J. ten Harkel, Yvonne Hilhorst-Hofstee
المصدر: Genetics in Medicine. 21:2159-2164
مصطلحات موضوعية: Published Erratum, Perspective (graphical), Psychology, Genome, Genetics (clinical), Genealogy, Human genetics, Spelling
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المؤلفون: Maayke A. de Koning, Emilia K. Bijlsma, Esther A. R. Nibbeling, Phebe N. Adama‐Scheltema, E J T Joanne Verweij, Cacha M.P.C.D. Peeters-Scholte, Mariëtte J.V. Hoffer, Marieke B. Veenhof, Gijs W. E. Santen, Menno J. P. Toirkens
المصدر: Clinical Genetics, 101(1), 65-77. WILEY
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, prenatal, fetal neurology, Clinical Decision-Making, Nervous System Malformations, Corpus callosum, Ultrasonography, Prenatal, Consanguinity, Prenatal ultrasound, Fetus, CNS malformation, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Cns anomalies, Neurologists, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Pregnancy Outcome, Disease Management, medicine.disease, Hypoplasia, body regions, counseling, Agenesis, Female, Late termination of pregnancy, business, human activities, exome sequencing
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba07cbba6c9e2fac274ebaa0db86665
https://hdl.handle.net/1887/3249467 -
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المؤلفون: null Maayke A. Koning, null Mariëtte J. V. Hoffer, null Esther A. R. Nibbeling, null Emilia K. Bijlsma, null Menno J. P. Toirkens, null Phebe N. Adama‐Scheltema, null E. J. T. (Joanne) Verweij, null Marieke B. Veenhof, null Gijs W. E. Santen, null Cacha M. P. C. D. Peeters‐Scholte
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b96a50879a003d0e84cdd64f822fec4
https://doi.org/10.1111/cge.14070/v3/response1 -
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المؤلفون: E. J. (Joanne) Verweij, Menno J. P. Toirkens, Phebe N. Adama‐Scheltema, Esther A. R. Nibbeling, Gijs W. E. Santen, Emilia K. Bijlsma, Maayke A. de Koning, Cacha M.P.C.D. Peeters-Scholte, Marieke B. Veenhof, Mariëtte J.V. Hoffer
مصطلحات موضوعية: Fetus, business.industry, Medicine, business, Bioinformatics, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cd33eb80d57f2f0b8c3378178ecf098
https://doi.org/10.1111/cge.14070/v2/response1 -
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المؤلفون: Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling
المساهمون: Neurology, Graduate School
المصدر: Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkinsمصطلحات موضوعية: 0301 basic medicine, NICU, Male, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, health care facilities, manpower, and services, Population, clinical geneticists, 030105 genetics & heredity, Genome, Infant, Newborn, Diseases, Single test, 03 medical and health sciences, Exome Sequencing, Clinical genetic, medicine, Humans, Exome, Genetic Testing, Medical diagnosis, education, Genetics (clinical), Exome sequencing, Retrospective Studies, education.field_of_study, business.industry, Infant, Newborn, Chromosome Mapping, sequencing, rapid, 030104 developmental biology, ES, Intensive Care, Neonatal, Female, business, Genome-Wide Association Study
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المؤلفون: Bruce Hopper, Ellen Macnamara, Valerie A. Arboleda, David Goudie, Nobuhiko Okamoto, Anne Blomhoff, Elizabeth M. McCormick, Joanna Kennedy, Zornitza Stark, Usha Kini, Benjamin Cogné, Susan Schelley, Emilie D. Douine, Stanley F. Nelson, Tiong Yang Tan, Mark Williams, Shelagh Joss, Kimberley Bradbury, Helen Heussler, Hakon Hakonarson, Claudia A. L. Ruivenkamp, Dusica Babovic-Vuksanovic, Jennifer L. Murphy, Esther A. R. Nibbeling, Ruth Armstrong, Mohamed Wafik, Melissa Lees, Louanne Hudgins, Mariet W. Elting, Naomichi Matsumoto, Ruth Newbury-Ecob, Benjamin Kamien, Sarina G. Kant, Alexander J. M. Dingemans, Eric W. Klee, Edward Blair, Bertrand Isidor, Dong Li, Victoria McKay, Marni J. Falk, Margot R.F. Reijnders, Patrick R. Blackburn, Patrick Yap, Phillis Lakeman, Kate Chandler, Janneke H M Schuurs-Hoeijmakers, Celia Duff-Farrier, Andrew Green, Ingrid Scurr, Noriko Miyake, Chirag Patel
المساهمون: Erasmus MC other, Pediatrics, Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in Medicine, 21(4), 850-860. Lippincott Williams & Wilkins
Genetics in medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. NATURE PUBLISHING GROUP
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Arboleda, V A & The DDD Study, 2019, ' KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ', Genetics in Medicine, vol. 21, no. 4, pp. 850-860 . https://doi.org/10.1038/s41436-018-0259-2مصطلحات موضوعية: 0301 basic medicine, Adult, Male, KAT6A syndrome, Microcephaly, Adolescent, Genotype, Developmental Disabilities, Biology, Article, 03 medical and health sciences, Exon, Young Adult, genetic diagnosis, 0302 clinical medicine, Intellectual disability, chromatin modifiers, medicine, Missense mutation, Humans, Protein Isoforms, Exome, Child, Genetics (clinical), Genetic Association Studies, Histone Acetyltransferases, Genetics, Infant, medicine.disease, Phenotype, Penetrance, 030104 developmental biology, intellectual disability, Child, Preschool, Speech delay, Mutation, Female, medicine.symptom, Chromosome Deletion, 030217 neurology & neurosurgery, phenotypic spectrum
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