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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 Hits 1 – 20 of 68 1 Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula Pimenta, J; Lopes, AM; Carracedo, A. - : Nature Publishing Group, 2019 BASE Show details 2 Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. Berg, Elizabeth L; Copping, Nycole A; Rivera, Josef K... In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018) BASE Show details 3 Non-invasive measurement of mRNA decay reveals translation initiation as the major determinant of mRNA stability Chan, Leon Y; Mugler, Christopher F; Heinrich, Stephanie. - : eLife Sciences Publications, Ltd, 2018 BASE Show details 4 Paraplangia sinespeculo, a new genus and species of bush-cricket, with notes on its biology and a key to the genera of Phaneropterinae (Orthoptera: Tettigonioidea) from Madagascar Heller, K.; Hemp, C.; Massa, B.. - : Orthopterists' Society, 2018. : country:US, 2018 BASE Show details 5 Y chromosomal evidence on the origin of northern Thai people. Brunelli, Andrea; Kampuansai, Jatupol; Seielstad, Mark... In: PloS one, vol 12, iss 7 (2017) BASE Show details 6 7p22.1 microduplication syndrome: Refinement of the critical region. Ronzoni, L; Grassi, FS; Pezzani, L; Tucci, A; Baccarin, M; Esposito, S; Milani, D. - 2017 Abstract: 7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the refinement of the minimal critical region. Our patient shares several major features of the 7p22.1 duplication syndrome, including craniofacial dysmorphisms and speech and motor delay, but she also presents with renal anomalies. Based on present and published dup7p22.1 patients we suggest that renal abnormalities might be an additional feature of the 7p22.1 microduplication syndrome. We also pinpoint the ACTB gene as the key gene affecting the 7p22.1 duplication syndrome phenotype. Keyword: 7p22.1 microduplication; Abnormalities; ACTB gene; Actins; Adolescent; Chromosome Duplication; Chromosomes; Comparative Genomic Hybridization; Craniofacial Abnormalities; Female; Human; Humans; Intellectual Disability; Kidney; Language Development Disorders; Male; Multiple; Pair 7; Phenotype; Renal anomalies; Ubiquitin-Protein Ligases URL: https://doi.org/10.1016/j.ejmg.2016.11.005 https://qmro.qmul.ac.uk/xmlui/handle/123456789/67316 BASE Hide details 7 Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan. Karafet, Tatiana M; Bulayeva, Kazima B; Nichols, Johanna... In: Journal of human genetics, vol 61, iss 3 (2016) BASE Show details 8 A human neurodevelopmental model for Williams syndrome. Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C... In: Nature, vol 536, iss 7616 (2016) BASE Show details 9 A human neurodevelopmental model for Williams syndrome. Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C... In: Nature, vol 536, iss 7616 (2016) BASE Show details 10 Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese... In: American journal of human genetics, vol 99, iss 3 (2016) BASE Show details 11 Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. D'Angelo, D.; Lebon, S.; Chen, Q.... In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016) BASE Show details 12 The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition. Hippolyte, L.; Maillard, A.M.; Rodriguez-Herreros, B.... In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016) BASE Show details 13 Genetic heritage of the balto-slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data Kushniarevich, A.; Utevska, O.; Chuhryaeva, M.. - : Public Library of Science, 2015 BASE Show details 14 A novel multi-alignment pipeline for high-throughput sequencing data. Huang, Shunping; Holt, James; Kao, Chia-Yu... In: Database : the journal of biological databases and curation, vol 2014, iss 0 (2014) BASE Show details 15 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, NH; Addis, L; Brandler, WM... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014) BASE Show details 16 Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Nudel, R; Simpson, NH; Baird, G... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014) BASE Show details 17 Las leyes de la lingüística en los sistemas de comunicación Hernández-Fernández, Antoni. - : Universitat de Barcelona, 2014 In: TDX (Tesis Doctorals en Xarxa) (2014) BASE Show details 18 Las leyes de la lingüística en los sistemas de comunicación Hernández-Fernández, Antoni. - : Universitat de Barcelona, 2014 BASE Show details 19 The XY gene hypothesis of psychosis: origins and current status. Crow, TJ In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013) BASE Show details 20 TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Wiszniewski, W; Hunter, JV; Hanchard, NA... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013) BASE Show details Page: 1 2 3 4

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