المؤلفون: Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, Mirjam van der Burg, Willem A. Dik, Pantipa Chatchatee, Anton W. Langerak, Sigrid M. A. Swagemakers, Jacqueline A. C. Goos, Irene M. J. Mathijssen, Virgil A. S. H. Dalm, Kanya Suphapeetiporn, Kim C. Heezen, Jose Drabwell, André G. Uitterlinden, Peter J. van der Spek, P. Martin van Hagen, The South East Asia Primary Immunodeficiencies (SEAPID) Consortium

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: primary immunodeficiencies, microarray-based genotyping, SNP microarray, single nucleotide variants (SNV) calling, copy number variants (CNV) calling, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.00614/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/2b37dbfc533b442aad705ee9c4ba4dda

المؤلفون: Irene Margreet Jacqueline Mathijssen, Tsun Man Choi, Jacqueline A C Goos, Edwin M. Ongkosuwito, Gem J. C. Kramer, Eppo B. Wolvius

المساهمون: Orthodontics, Oral and Maxillofacial Surgery, Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Choi, T M, Kramer, G J C, Goos, J A C, Mathijssen, I M J, Wolvius, E B & Ongkosuwito, E M 2022, ' Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis ', European Journal of Orthodontics, vol. 44, no. 3, pp. 287-293 . https://doi.org/10.1093/ejo/cjab056
European Journal of Orthodontics, 44(3), 287-293. Oxford University Press

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Orthodontics, Syndrome, Acrocephalosyndactylia, Dental age, medicine.disease, Dental care, Muenke syndrome, Craniosynostosis, Craniosynostoses, Child, Preschool, Basic Helix-Loop-Helix Transcription Factors, medicine, Humans, In patient, University medical, Saethre–Chotzen syndrome, Child, business, Dental maturity, Netherlands

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c124c08a7ebd5f0018d4a616cf93f0eb
https://hdl.handle.net/1871.1/9de11c83-2211-445f-a26d-e3d8e4390123

المؤلفون: Marieke F. van Dooren, Irene M.J. Mathijssen, Hadeel Adel Al-Lami, Karen J. Liu, William B. Barrell, Peter J. van der Spek, Jacqueline A C Goos, Elena Torban, Sigrid M. A. Swagemakers

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Pathology, Clinical Genetics

المصدر: European Journal of Human Genetics, 30(3), 282-290. Nature Publishing Group

مصطلحات موضوعية: Molecular pathology, Cilium, Mutant, Intracellular Signaling Peptides and Proteins, Biology, Fibroblasts, medicine.disease, Embryonic stem cell, Hedgehog signaling pathway, Cell biology, Craniosynostosis, Ciliopathy, Craniosynostoses, Cytoskeletal Proteins, Mice, Ciliogenesis, Genetics, medicine, Animals, Humans, Hedgehog Proteins, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5073a07f36f003654081e7dd6bf642
https://pubmed.ncbi.nlm.nih.gov/34719684

المؤلفون: Eppo B. Wolvius, Edwin M. Ongkosuwito, Irene M.J. Mathijssen, Lea Kragt, Jacqueline A C Goos, T. M. Choi

المساهمون: Oral and Maxillofacial Surgery, Pathology, Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Clinical Oral Investigations, 23(7), 2995-3003. Springer-Verlag
Clinical Oral Investigations, 23, 7, pp. 2995-3003
Clinical Oral Investigations, 23, 2995-3003
Clinical Oral Investigations

مصطلحات موضوعية: Male, Adolescent, Dentistry, Tooth development, Muenke syndrome, Craniosynostosis, Craniofacial biology/genetics, 03 medical and health sciences, Craniosynostoses, 0302 clinical medicine, Dental Arch, All institutes and research themes of the Radboud University Medical Center, Medicine, Humans, Jaw biomechanics, Craniofacial, Child, General Dentistry, Craniofacial surgery, Growth/development, Netherlands, Jaw relationship, Coronal craniosynostosis, business.industry, Mandible, 030206 dentistry, Orthodontic(s), Syndrome, Acrocephalosyndactylia, medicine.disease, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Dental arch, Syndromic craniosynostosis, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Maxilla, Child, Preschool, Dental arch dimensions, Original Article, Female, Craniofacial anomalies, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c184e8914342f3f068f697306dbb33ae
https://pure.eur.nl/en/publications/25e0ef4c-6c3c-4a69-9564-6cba34c18b25

المؤلفون: Jacqueline A C Goos, Irene M.J. Mathijssen

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Molecular Syndromology, 10(1-2), 6-23. Karger

مصطلحات موضوعية: business.industry, Genetics, medicine, Craniosynostosis syndromes, Review Article, medicine.disease, Bioinformatics, business, Genetics (clinical), Craniosynostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba8ea147480af61f63029510c53f3e9
https://doi.org/10.1159/000492266

المؤلفون: Mehdi Hossaini, Jacqueline A C Goos, Somesh K Kohli, Jan C Holstege

المصدر: PLoS ONE, Vol 7, Iss 4, p e35293 (2012)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3340372?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/63c0cd191d0b4c4abb05a4d10da3922e

الاتاحة: https://doi.org/10.1371/journal.pone.0035293
https://doaj.org/article/63c0cd191d0b4c4abb05a4d10da3922e

المؤلفون: Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, Mirjam van der Burg, Willem A. Dik, Pantipa Chatchatee, Anton W. Langerak, Sigrid M. A. Swagemakers, Jacqueline A. C. Goos, Irene M. J. Mathijssen, Virgil A. S. H. Dalm, Kanya Suphapeetiporn, Kim C. Heezen, Jose Drabwell, André G. Uitterlinden, Peter J. van der Spek, P. Martin van Hagen, The South East Asia Primary Immunodeficiencies

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, primary immunodeficiencies, microarray-based genotyping, SNP microarray, single nucleotide variants (SNV) calling, copy number variants (CNV) calling

Relation: https://figshare.com/articles/dataset/Table_2_Rapid_Low-Cost_Microarray-Based_Genotyping_for_Genetic_Screening_in_Primary_Immunodeficiency_xlsx/12128628

الاتاحة: https://doi.org/10.3389/fimmu.2020.00614.s002
https://figshare.com/articles/dataset/Table_2_Rapid_Low-Cost_Microarray-Based_Genotyping_for_Genetic_Screening_in_Primary_Immunodeficiency_xlsx/12128628

المؤلفون: Jacqueline A C, Goos, Walter K, Vogel, Hana, Mlcochova, Christopher J, Millard, Elahe, Esfandiari, Wisam H, Selman, Eduardo, Calpena, Nils, Koelling, Evan L, Carpenter, Sigrid M A, Swagemakers, Peter J, van der Spek, Theresa M, Filtz, John W R, Schwabe, Urszula T, Iwaniec, Irene M J, Mathijssen, Mark, Leid, Stephen R F, Twigg

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Male, Whole Genome Sequencing, Protein Conformation, Tumor Suppressor Proteins, DNA Mutational Analysis, Mutation, Missense, Infant, Cranial Sutures, Chromatin Assembly and Disassembly, White People, Nucleosomes, Repressor Proteins, Craniosynostoses, Disease Models, Animal, Mice, Osteogenesis, Trans-Activators, Animals, Humans, Retinoblastoma-Binding Protein 4, General Article, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e7a940a04fb379b7c00ee6a00f4c7dfc
https://pubmed.ncbi.nlm.nih.gov/31067316

المؤلفون: Benjamin L. Emmink, Jacqueline A C Goos, Willem-Maarten Bosman, Dorothee Nieuwenhuis

المصدر: BMJ Case Rep

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Computed Tomography Angiography, Bone Screws, Unusual Association of Diseases/Symptoms, Arterial reconstruction, Dissection (medical), Right knee, Fracture Fixation, Internal, 03 medical and health sciences, 0302 clinical medicine, medicine.artery, medicine, Humans, Popliteal Artery, 030212 general & internal medicine, Fractures, Comminuted, 030222 orthopedics, medicine.diagnostic_test, business.industry, Accidents, Traffic, General Medicine, Vascular surgery, medicine.disease, Popliteal artery, Surgery, Tibial Fractures, Treatment Outcome, Motorcycles, Angiography, Orthopedic surgery, Lateral femoral condyle, business, Femoral Fractures

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16104c838a4e8755a848a09647937fcf
https://doi.org/10.1136/bcr-2019-232348

المؤلفون: M E P van den Elzen, A. J. M. Hoogeboom, A. M. W. Van Den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jacqueline A C Goos, Stephen R.F. Twigg

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics

المصدر: European Journal of Human Genetics, 22(8), 995-1001. Nature Publishing Group

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Clinodactyly, Adolescent, Genetic counseling, Physical examination, Ephrin-B1, Article, Craniofacial Abnormalities, Young Adult, Genetics, medicine, Humans, Body Weights and Measures, Hypertelorism, Child, Genetic Association Studies, Genetics (clinical), Nose, medicine.diagnostic_test, business.industry, Facial cleft, Skull, Facies, Infant, medicine.disease, Dermatology, Cross-Sectional Studies, Phenotype, medicine.anatomical_structure, Amino Acid Substitution, Dysplasia, Child, Preschool, Mutation, Webbed neck, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8773ee1ff77365ef79ce88d6430682
https://doi.org/10.1038/ejhg.2013.273

المؤلفون: Elizabeth Sweeney, Irene M.J. Mathijssen, Nu Owase Jeelani, David W. Johnson, Richard J. Cornall, Stephen R.F. Twigg, John Broxholme, Dylan J. Murray, Sally Ann Lynch, Peter J. van der Spek, A. Jeannette M. Hoogeboom, Vikram P Sharma, Angela F. Brady, Simon J. McGowan, Andrew O.M. Wilkie, Aimee L. Fenwick, Mia Brockop, Alexander Kanapin, Sophia C. Bennett, Louise C. Wilson, Julie M. Phipps, Susan Tomkins, Steven A. Wall, John B. Mulliken, Jacqueline A C Goos, Robert E. Maxson

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology

المصدر: Nature Genetics, 45(3), 304-307. Nature Publishing Group

مصطلحات موضوعية: Transcriptional Activation, Heterozygote, animal structures, Molecular Sequence Data, Mice, Transgenic, Gene mutation, Biology, medicine.disease_cause, Article, Craniosynostosis, Craniosynostoses, Mice, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Animals, Humans, Exome, Exome sequencing, Mutation, Coronal craniosynostosis, Basic helix-loop-helix, Twist-Related Protein 1, Gene Expression Regulation, Developmental, Nuclear Proteins, Cranial Sutures, Sequence Analysis, DNA, Acrocephalosyndactylia, medicine.disease, Molecular biology, medicine.anatomical_structure, Coronal suture, Dimerization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4470ea788694f6ca548b16cbc2ba562d
https://doi.org/10.1038/ng.2531

المؤلفون: L. N. A. van Adrichem, Edwin M. Ongkosuwito, Evert Wattel, J.W. van Neck, Jacqueline A C Goos, K.G.H. van der Wal

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Oral and Maxillofacial Surgery

المصدر: Cleft Palate-Craniofacial Journal, 49(4), 472-476. American Cleft Palate Craniofacial Association

مصطلحات موضوعية: Male, medicine.medical_specialty, Facial expression, Landmark, Observational error, Phantoms, Imaging, business.industry, Triangulation (social science), Patient Positioning, Surgery, Imaging, Three-Dimensional, Otorhinolaryngology, Photogrammetry, Statistics, Range (statistics), Humans, Medicine, Oral Surgery, business, Head

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508315aa64e33682b66f076caa0ce730
https://doi.org/10.1597/10-270

المؤلفون: Kerry A. Miller, Jacqueline A C Goos, Christa Merzdorf, Isabelle Westbury, Sigrid M. A. Swagemakers, A. Jeannette M. Hoogeboom, Maarten H. Lequin, Steven A. Wall, Simon J. McGowan, Peter J. van der Spek, Jennifer Forecki, Ans M.W. van den Ouweland, Irene M.J. Mathijssen, Daniel J. Van Antwerp, Erwin Pauws, Ivy C.A. Richardson, Andrew O.M. Wilkie, Stephen R.F. Twigg

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology, Radiology & Nuclear Medicine

المصدر: American Journal of Human Genetics, 97(3), 378-388. Cell Press

مصطلحات موضوعية: Male, Nonsense mutation, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Biology, medicine.disease_cause, ZIC1, Article, Craniosynostosis, Exon, Craniosynostoses, Mice, Xenopus laevis, medicine, Genetics, Missense mutation, Animals, Humans, Genetics(clinical), Cloning, Molecular, Genetics (clinical), In Situ Hybridization, Homeodomain Proteins, Mutation, Coronal craniosynostosis, Base Sequence, Learning Disabilities, Gene Expression Regulation, Developmental, Sequence Analysis, DNA, medicine.disease, Pedigree, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Karyotyping, Female, Coronal suture, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42f03e51cc19da32f82b0031d402b03
https://pure.eur.nl/en/publications/f89e830b-387f-4b39-b8c1-18d3163ef5fa

المؤلفون: Vikram P Sharma, Steven A. Wall, Jacqueline A C Goos, Stephen R.F. Twigg, Aimee L. Fenwick, Andrew O.M. Wilkie

المصدر: Journal of Plastic, Reconstructive & Aesthetic Surgery. 67:1462

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medicine, Surgery, business, Craniofacial surgery, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::96a0fb9f8033ccb5122ac7598a169c7d
https://doi.org/10.1016/j.bjps.2014.08.023