المؤلفون: Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li

المصدر: Clinical geneticsREFERENCES. 100(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Cornelia de Lange Syndrome, Adolescent, Medizin, 030105 genetics & heredity, Biology, 03 medical and health sciences, Broad spectrum, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, Tooth Abnormalities, Facies, KBG SYNDROME, medicine.disease, Phenotype, Pedigree, Developmental disorder, Repressor Proteins, 030104 developmental biology, Clinical diagnosis, Child, Preschool, Face, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668804a0e706fdf645d64ce67eee4e7bTest
https://pubmed.ncbi.nlm.nih.gov/33955014Test

المؤلفون: Thomas, Eggermann, Florian, Kraft, Katja, Kloth, Eva, Klopocki, Irina, Hüning, Maja, Hempel, Erdmute, Kunstmann

المصدر: Clinical geneticsREFERENCES. 98(4)

مصطلحات موضوعية: Male, Beckwith-Wiedemann Syndrome, Chromosomes, Human, Pair 11, Infant, Newborn, Infant, Genomic Imprinting, Silver-Russell Syndrome, Phenotype, Insulin-Like Growth Factor II, Child, Preschool, Chromosome Duplication, Humans, Female, Genetic Predisposition to Disease, RNA, Long Noncoding, Chromosome Deletion, Child, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::845014599d70be096827dd18748f2e70Test
https://pubmed.ncbi.nlm.nih.gov/33294970Test