المؤلفون: Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Central nervous system, Nerve Tissue Proteins, Receptors, Cell Surface, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Homologous chromosome, medicine, Missense mutation, Animals, Humans, Global developmental delay, Eye Abnormalities, Zebrafish, Genetics (clinical), Genetic Association Studies, Genetics, biology, biology.organism_classification, medicine.disease, Embryonic stem cell, Phenotype, ddc, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19Test
https://pubmed.ncbi.nlm.nih.gov/34054129Test

المؤلفون: Hemakumar M. Reddy, Satomi Mitsuhashi, Anthony A. Amato, Hart G.W. Lidov, Monkol Lek, Peter B. Kang, Elicia Estrella, Timothy W. Yu, Elise Valkanas, David M. Margulies, Basil T. Darras, Mustafa A. Salih, Kyung-Ah Cho, Louis M. Kunkel, Daniel G. MacArthur, Catherine A. Brownstein, Michael D. Jones

المصدر: Journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Duchenne muscular dystrophy, Biology, Article, 03 medical and health sciences, symbols.namesake, SGCG, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Exome, Genetic Testing, Muscular dystrophy, Genetics (clinical), Exome sequencing, SGCA, Sanger sequencing, Base Sequence, Glycogen Storage Disease Type II, Sequence Analysis, DNA, medicine.disease, Congenital myopathy, Muscular Dystrophy, Facioscapulohumeral, United States, 3. Good health, Distal Myopathies, Muscular Dystrophy, Duchenne, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, symbols, Female, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e07d9476add8e76d0dac90bc7ea62d4Test
http://europepmc.org/articles/PMC5266644Test

المؤلفون: Mustafa A. Salih, Skylar A. Rizzo, Louis M. Kunkel, Elise Valkanas, Madhurima Saha, Monkol Lek, Peter B. Kang, Hemakumar M. Reddy, Satomi Mitsuhashi, Michael D. Jones, Maowia M. Mukhtar, Muddathir H. Hamad, Elicia Estrella, Ahlam A. Hamed, Daniel G. MacArthur, Kyung Ah Cho, Maha A. Elseed, Christina A. Pacak, Isabelle Draper, Silveli Suzuki-Hatano

المصدر: Physiological genomics. 50(11)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Physiology, Cellular respiration, Cell Respiration, Saudi Arabia, Biology, Animals, Genetically Modified, Myoblasts, Sudan, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, medicine, Animals, Drosophila Proteins, Humans, Oxidoreductases Acting on Sulfur Group Donors, Mendelian disorders, Exome sequencing, Cells, Cultured, medicine.disease, Mitochondria, Muscle, Pedigree, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Drosophila, Female, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a836d708d6d4271493f7ea2b30154627Test
https://pubmed.ncbi.nlm.nih.gov/30345904Test

المؤلفون: David R. Mowat, Taru Tukiainen, Himanshu Joshi, Ben Weisburd, Gina L. O'Grady, Elise Valkanas, Fathimath Faiz, Adam Bournazos, Simon Sadedin, Rebecca Gooding, Frances J. Evesson, Katherine R. Neas, Amanda Charlton, Hugo Sampaio, Michel Tchan, Kristi J. Jones, Monkol Lek, Nicole Graf, Jamie L. Marshall, Mark R. Davis, Charles Chan, Min-Xia Wang, Beryl B. Cummings, Daniel G. MacArthur, Alan Ma, Leigh B. Waddell, Samantha J. Bryen, Susan Arbuckle, Emily C. Oates, Sandra T. Cooper, Nigel F. Clarke, Sarah A. Sandaradura, Diane Kenwright, Michelle A. Farrar

المصدر: Neurology Genetics. 7:e554

مصطلحات موضوعية: musculoskeletal diseases, Genetics, Messenger RNA, Massive parallel sequencing, biology, RNA, medicine.disease, Complementary DNA, RNA splicing, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, Exome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::84786fa6905974c6d00e8b619bc4f069Test
https://doi.org/10.1212/nxg.0000000000000554Test

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:USP

مصطلحات 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