Browsing by Subject Deletion

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)TypeAccess Type
9-Jan-2008A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaGilling, M.; Lauritsen, M.B.; Møller, M.; Henriksen, K.F.; Vicente, A.M.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P.S.; Mors, O.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R.M.; Lundsteen, C.; Ropers, H.H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.articleopenAccess
Nov-20146q terminal deletion: a new contribution to genotype-phenotype correlationSimão, Laurentino; Marques, Bárbara; Sónia, Pedro; Antunes, Diana; Brito, Filomena; Silva, Neuza; Nunes, Luis; Correia, HildebertoconferenceObjectopenAccess
Jul-2011Chromosome 1p36 deletion syndrome: a report on 4 casesCandeias, Cristina; Mota Freitas, Manuela; Ribeiro, Joana; Oliveira, Fernanda Paula; Aguiar, Joaquim; Oliva Teles, Natália; Soares, Gabriela; Carrilho, Inês; Martins, Márcia; Correia, Hildeberto; Fonseca Silva, Maria da LuzconferenceObjectopenAccess
Nov-2011Novel and rare large deletions in the globin gene clusters causing different types of thalassemiaCoelho, Andreia; Fernandes, Emília; Batalha-Reis, Ana; Sonesson, Annika; Picanço, Isabel; Miranda, Armandina; Faustino, PaulaconferenceObjectopenAccess
Apr-2011A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old womanReis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, EsmeraldinaconferenceObjectopenAccess