المؤلفون: Arnold Munnich, Fabien Guimiot, H. Plauchu, Maria-Luisa Giovannucci-Uzielli, Patrick Edery, Anee-Lise Delezoide, Luitgard Graul-Neumann, Massimiliano Rossi, Carl-Joachim Partsch, Valérie Malan, Judith Melki, Pierre Chatelain, Thomas Edouard, Kate Gibson, Robin D. Clark, Martin Zenker, Helen Stewart, Johana-Maria van Hagen, Liselot P. van Hest, Gabriele Gillessen-Kaesbach, Clarisse Baumann, Martine Le Merrer, Helen Cox, Anna Rajab, Carol Chu, Elisabeth Steichen-Gersdorf, Valérie Cormier-Daire, Céline Huber, Dominique Bonneau, Daniela Bezerra Da Silva, Virginia Fano, Sheila Unger, Dafne Horovitz, David Sillence

المساهمون: Human genetics, Other Research

المصدر: European Journal of Human Genetics, 17(3), 395-400. Nature Publishing Group
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200Test

مصطلحات موضوعية: Male, Short Report, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Genetic Heterogeneity, Fetus, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Child, Gene, Genetics (clinical), Isodisomy, Genetic diversity, Fetal Growth Retardation, Genetic heterogeneity, Postnatal growth retardation, Syndrome, Cullin Proteins, medicine.disease, Radiography, Child, Preschool, Mutation, 3-M syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f72c0d8466e69126e3bfed3398a3c8Test
https://doi.org/10.1038/ejhg.2008.200Test

المؤلفون: Muriel Holder-Espinasse, Melita Irving, Valérie Cormier-Daire

المصدر: European Journal of Human Genetics. 22:572-572

مصطلحات موضوعية: medicine.medical_specialty, Genotype, Dwarfism, Biology, Cullin Proteins, medicine.disease, Bioinformatics, Spine, Human genetics, Cytoskeletal Proteins, Phenotype, Carrier protein, Family medicine, 3-M syndrome, Genetics, medicine, Humans, Muscle Hypotonia, Genetic Testing, Carrier Proteins, Genetics (clinical), Clinical Utility Gene Card Update

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d038a350b365c01bc98dd337f6b1b8Test
https://doi.org/10.1038/ejhg.2013.156Test

المؤلفون: Muriel Holder-Espinasse, Valérie Cormier-Daire, Melita Irving

المصدر: European Journal of Human Genetics. 19:1017-1017

مصطلحات موضوعية: Genetics, Muscle Hypotonia, business.industry, Cullin Proteins, MEDLINE, Dwarfism, Biology, Bioinformatics, medicine.disease, Sensitivity and Specificity, Spine, Cytoskeletal Proteins, Text mining, Intellectual Disability, Clinical Utility Gene Card, Intellectual disability, medicine, Humans, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57574d89ba2aeb69fe94f3d7f0c98bebTest
https://doi.org/10.1038/ejhg.2011.32Test