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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Pierre-Louis Docquier, Anne Dompmartin, Odile Enjolras, Mustapha Amyere, Laurence M. Boon, Vinciane Wouters, Miikka Vikkula, Catherine Godfraind, John B. Mulliken, Ilkka Kaitila
المصدر: Molecular Syndromology. 5:259-267
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Somatic cell, Biology, medicine.disease, medicine.disease_cause, IDH2, Maffucci syndrome, Genetics, medicine, Enchondromatosis, Enchondroma, Original Article, Chondrosarcoma, Ollier disease, Genetics (clinical)
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المؤلفون: Lauri Eklund, Miikka Vikkula, Vinciane Wouters, Nisha Limaye, Mélanie Uebelhoer, John B. Mulliken, Laurence M. Boon, Marjut Tuominen, Riikka Wirkkala
المصدر: Nature genetics
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Vascular Malformations, Angiogenesis, Somatic cell, Endoplasmic Reticulum, Ligands, Article, Receptor tyrosine kinase, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Angiopoietin-1, Genetics, medicine, Humans, Phosphorylation, Loss function, Sequence Deletion, 030304 developmental biology, 0303 health sciences, biology, Endothelial Cells, medicine.disease, Receptor, TIE-2, Angiopoietin receptor, Protein Structure, Tertiary, Protein Transport, 030220 oncology & carcinogenesis, Mutation, biology.protein, Mutant Proteins, Venous malformation
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المؤلفون: Bénédicte Gérard, Guylène Bertrand, Laurence M. Boon, Bernard Grandchamp, Christiane Rouyer, Vinciane Wouters, Caroline Silve, Miikka Vikkula, Alain Couvineau
المساهمون: UCL - SSS/IREC/CHEX - Pôle de chirgurgie expérimentale et transplantation, UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de chirurgie plastique
المصدر: Human Molecular Genetics, Vol. 17, no. 18, p. 2766-75 (2008)
مصطلحات موضوعية: Adult, Male, Adolescent, Receptor expression, Molecular Sequence Data, Mutation, Missense, CHO Cells, medicine.disease_cause, Cercopithecus aethiops, Cohort Studies, Cricetulus, Cricetinae, Chlorocebus aethiops, Cyclic AMP, Genetics, Enchondromatosis, medicine, GNAS complex locus, Enchondroma, Animals, Humans, Missense mutation, Child, Molecular Biology, Ollier disease, Genetics (clinical), Receptor, Parathyroid Hormone, Type 1, Mutation, biology, Articles, General Medicine, Middle Aged, medicine.disease, Protein Structure, Tertiary, Maffucci syndrome, Parathyroid Hormone, COS Cells, biology.protein, Female, Chondroma, Protein Binding, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1581827831280250e93078b6ed222e28
https://doi.org/10.1093/hmg/ddn176 -
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المؤلفون: Loshan Kangesu, Anthony J. Penington, Miikka Vikkula, Laurence M. Boon, Sten A Ivarsson, Nisha Limaye, Anne Dompmartin, Jill Murphy, Alexandre Irrthum, Yves Lacassie, Ahmad S. Teebi, Mélanie Uebelhoer, Vinciane Wouters, Odile Enjolras, Paul N.M.A. Rieu, John B. Mulliken, Eulalia Baselga, Jonathan Berg
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)مصطلحات موضوعية: Male, Vascular Malformations, Blotting, Western, Molecular Sequence Data, Hyperphosphorylation, Ligands, Skin Diseases, vascular anomaly, Receptor tyrosine kinase, Germline, Article, Veins, VMCM, angiogenesis, Chlorocebus aethiops, Genetics, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Phosphorylation, Genetics (clinical), Skin, biology, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Mouth Mucosa, Phenotype, Molecular biology, Angiopoietin receptor, Receptor, TIE-2, hyperphosphorylation, Pedigree, Protein kinase domain, Haplotypes, TEK, COS Cells, Mutation, biology.protein, Female, Signal transduction, genetic, Mouth Diseases, Tyrosine kinase, Signal Transduction
