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1
المساهمون: De Maria, Beatrice, Mazzanti, Laura, Roche, Nathalie, Hennekam, Raoul C., ANS - Complex Trait Genetics, APH - Amsterdam Public Health, Paediatric Genetics
المصدر: American journal of medical genetics. Part A, 170A(8), 1989-2001. Wiley-Liss Inc.
مصطلحات موضوعية: Hirsutism, Genotype, review, Hypertrichosis, Genetic Association Studie, TWIST2, ablepharon-macrostomia syndrome, Genetic, plastic surgery, Skin Abnormalitie, Humans, Setleis syndrome, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), Genetic Association Studies, Macrostomia, Hypertelorism, Twist-Related Protein 2, Hypertrichosi, Facies, Eyelid Disease, Facie, Eye Abnormalitie, Phenotype, Mutation, Eyelid Diseases, Skin Abnormalities, Barber-Say syndrome, sense organs, management, Human
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::052851bc6305c2668f9f18c448f92259Test
https://pubmed.ncbi.nlm.nih.gov/27196381Test -
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المؤلفون: Beatriz Berenguer, Concepción Lorca-García, Marco Pignatti, Giorgio De Santis, Irene Laura Lusetti, Federico A. Giorgini, Nathalie Roche, Salvatore D'Arpa
المساهمون: Pignatti, Marco, D'Arpa, Salvatore, Roche, Nathalie, Giorgini, Federico A, Lusetti, Irene Laura, Lorca-Garcia, Concepcion, De Santis, Giorgio, Berenguer, Beatriz
المصدر: WOUND REPAIR AND REGENERATION
مصطلحات موضوعية: Hypogastrium, medicine.medical_specialty, recurrence, pressure sore, medicine.medical_treatment, FASCIOCUTANEOUS FLAP, Dermatology, pressure injury, perforator flappressure injury, Surgical Flaps, children, perforator flap, Child, Humans, Lower Extremity, Retrospective Studies, Treatment Outcome, Wound Healing, Pressure Ulcer, Reconstructive Surgical Procedures, OSTEOMYELITIS, Medicine and Health Sciences, medicine, RECONSTRUCTION, Stage (cooking), RISK, Debridement, PEDIATRIC-PATIENTS, business.industry, Pedicled Flap, Plastic Surgery Procedures, Sacrum, Ischium, PREVALENCE, Surgery, Plastic surgery, ULCERS, Presentation (obstetrics), business
وصف الملف: STAMPA; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79079d27527b91b35b71d101cdf04067Test
https://hdl.handle.net/11585/831411Test -
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المؤلفون: Elise Valkanas, Hon-Yin Brian Chung, Peter Farndon, Patricia M. Zerfas, Oliver Bartsch, Martin Zenker, Jeroen Bakkers, Alexander Hoischen, Feliciano J. Ramos, Eva Bermejo-Sánchez, Haigen Huang, Gijs van Haaften, Lynne A. Wolfe, Taylor Davis, Eduarda Morgana da Silva, Han G. Brunner, W. K. Jacyk, Bruno Dallapiccola, Laura Mazzanti, Cathy A. Stevens, Mieke M. van Haelst, Hanka Venselaar, Cornelius F. Boerkoel, Francesco Brancati, Cynthia J. Tifft, May Christine V. Malicdan, Nathalie Roche, Bert B.A. de Vries, Victor Evangelista de Faria Ferraz, Chyi-Chia Richard Lee, Brian P. Brooks, Farahnaz Sabbagh-Kermani, Federico Tessadori, Denny Schanze, Barbara N. Pusey, Ariana Kariminejad, Valerie Maduro, Janice Lee, Giovanna Zambruno, Shuo Lin, Cédric Le Caignec, Thomas C. Markello, Maria Tsokos, Shannon Marchegiani, Fabiana Martins, William A. Gahl, Anneke T. Vulto-van Silfhout
المساهمون: Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, Van Haaften, Gij, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-Van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, Da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., De Vries, Bert B.A., Van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C., Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: American Journal of Human Genetics, 97, 1, pp. 99-110
Marchegiani, S, Davis, T, Tessadori, F, van Haaften, G, Brancati, F, Hoischen, A, Huang, H, Valkanas, E, Pusey, B, Schanze, D, Venselaar, H, Vulto-van Silfhout, A T, Wolfe, L A, Tifft, C J, Zerfas, P M, Zambruno, G, Kariminejad, A, Sabbagh-Kermani, F, Lee, J, Tsokos, M G, Lee, C-C R, Ferraz, V, da Silva, E M, Stevens, C A, Roche, N, Bartsch, O, Farndon, P, Bermejo-Sanchez, E, Brooks, B P, Maduro, V, Dallapiccola, B, Ramos, F J, Chung, H-Y B, Le Caignec, C, Martins, F, Jacyk, W K, Mazzanti, L, Brunner, H G, Bakkers, J, Lin, S, Malicdan, M C V, Boerkoel, C F, Gahl, W A, de Vries, B B A, van Haelst, M M, Zenker, M & Markello, T C 2015, ' Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes ', American journal of human genetics, vol. 97, no. 1, pp. 99-110 . https://doi.org/10.1016/j.ajhg.2015.05.017Test
American Journal of Human Genetics, 97, 99-110
American Journal of Human Genetics, 97(1), 99. Cell Press
American journal of human genetics, 97(1), 99-110. Cell Press
American Journal of Human Genetics, 97(1), 99-110. Cell Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Models, Molecular, Candidate gene, Hirsutism, Protein Conformation, HeLa Cell, medicine.disease_cause, Transcriptome, Twist transcription factor, Models, Genetics(clinical), Exome, Eye Abnormalities, Non-U.S. Gov't, Genetics (clinical), Zebrafish, Genetics, Mutation, Microscopy, Macrostomia, Setleis syndrome, Hypertelorism, Research Support, Non-U.S. Gov't, Hypertrichosi, Eyelid Disease, GENÉTICA, Phenotype, Eyelid Diseases, Abnormalities, Multiple, Sequence Analysis, Human, Chromatin Immunoprecipitation, Molecular Sequence Data, Mutation, Missense, Hypertrichosis, Amino Acid Sequence, Animals, Base Sequence, HeLa Cells, Humans, Electron, Missense, Repressor Proteins, DNA, Skin Abnormalities, Twist Transcription Factor, Molecular, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Article, Frameshift mutation, Genetic, Ablepharon macrostomia syndrome, Skin Abnormalitie, medicine, Journal Article, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Animal, Twist-Related Protein 1, Sequence Analysis, DNA, Repressor Protein, medicine.disease, Eye Abnormalitie, Microscopy, Electron, sense organs, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
وصف الملف: application/pdf; image/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1749856e024ae1fd6a1491db82f32077Test
https://doi.org/10.1016/j.ajhg.2015.05.017Test