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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 5...9 Hits 1 – 20 of 177 1 Impact of mother–infant interaction on development during the first year of life: A systematic review ... Nelci Adriana Cicuto Ferreira Rocha; Silva, Fernanda Pereira Dos Santos; Santos, Mariana Martins Dos. - : Figshare, 2019 BASE Show details 2 Impact of mother–infant interaction on development during the first year of life: A systematic review ... Nelci Adriana Cicuto Ferreira Rocha; Silva, Fernanda Pereira Dos Santos; Santos, Mariana Martins Dos. - : Figshare, 2019 BASE Show details 3 Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders ... Trinh, Joanne; Kandaswamy, Krishna; Werber, Martin. - : Figshare, 2019 BASE Show details 4 Caregiver perceptions of child development in rural Madagascar: a cross-sectional study ... Chung, Esther; Fernald, Lia; Galasso, Emanuela. - : figshare, 2019 BASE Show details 5 Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index ... Hare-Harris, Abby; Mitchel, Marissa; Myers, Scott. - : figshare, 2019 BASE Show details 6 Caregiver perceptions of child development in rural Madagascar: a cross-sectional study ... Chung, Esther; Fernald, Lia; Galasso, Emanuela. - : figshare, 2019 BASE Show details 7 Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders ... Trinh, Joanne; Kandaswamy, Krishna; Werber, Martin; Weiss, Maximilian; Oprea, Gabriela; Shivendra Kishore; Lohmann, Katja; Rolfs, Arndt. - : Figshare, 2019 Abstract: Abstract Background Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Methods Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a focus on variants in genes implicated in neurodevelopmental disorders up to January 2017. This resulted in a genetic diagnosis in 1336 of the patients. In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes. Results We identified 65 rare, protein-changing variants in 11 of these 14 novel candidate genes. Fourteen variants in CDK13, CHD4, KCNQ3, KMT5B, TCF20, and ZBTB18 were scored pathogenic or likely pathogenic. Of note, two of these patients had a previously identified ... Keyword: 110309 Infectious Diseases; 19999 Mathematical Sciences not elsewhere classified; 69999 Biological Sciences not elsewhere classified; Cancer; Computational Biology; FOS Biological sciences; FOS Health sciences; FOS Mathematics; FOS Sociology; Genetics; Medicine; Sociology; Space Science URL: https://dx.doi.org/10.6084/m9.figshare.c.4555190 https://springernature.figshare.com/collections/Novel_pathogenic_variants_and_multiple_molecular_diagnoses_in_neurodevelopmental_disorders/4555190 BASE Hide details 8 Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index ... Hare-Harris, Abby; Mitchel, Marissa; Myers, Scott. - : figshare, 2019 BASE Show details 9 Syntactic representation is independent of semantics in Mandarin: evidence from syntactic priming ... Xuemei Chen; Branigan, Holly P.; Suiping Wang. - : Taylor & Francis, 2019 BASE Show details 10 Syntactic representation is independent of semantics in Mandarin: evidence from syntactic priming ... Xuemei Chen; Branigan, Holly P.; Suiping Wang. - : Taylor & Francis, 2019 BASE Show details 11 Evaluation of factors influencing the guide to read biomedical English literature course for Chinese new medical postgraduates—a multiple regression analysis ... Zhipeng Xu; Jingfan Qiu; Bingya Yang. - : Figshare, 2019 BASE Show details 12 Evaluation of factors influencing the guide to read biomedical English literature course for Chinese new medical postgraduates—a multiple regression analysis ... Zhipeng Xu; Jingfan Qiu; Bingya Yang. - : Figshare, 2019 BASE Show details 13 A frequent acoustic sign of speech motor delay (SMD) ... Shriberg, Lawrence D.; Wren, Yvonne E.. - : Taylor & Francis, 2019 BASE Show details 14 Additional file 2: of The development and theoretical application of an implementation framework for dialectical behaviour therapy: a critical literature review ... Toms, Gill; Williams, Lynne; Rycroft-Malone, Jo. - : figshare, 2019 BASE Show details 15 Additional file 2: of The development and theoretical application of an implementation framework for dialectical behaviour therapy: a critical literature review ... Toms, Gill; Williams, Lynne; Rycroft-Malone, Jo. - : figshare, 2019 BASE Show details 16 A frequent acoustic sign of speech motor delay (SMD) ... Shriberg, Lawrence D.; Wren, Yvonne E.. - : Taylor & Francis, 2019 BASE Show details 17 A frequent acoustic sign of speech motor delay (SMD) ... Shriberg, Lawrence D.; Wren, Yvonne E.. - : Taylor & Francis, 2019 BASE Show details 18 Evaluation of a structured skills training group for adolescents with attention deficit/hyperactivity disorder (ADHD) – study protocol of a randomised controlled trial ... Meyer, Jenny; Ramklint, Mia; Hallerbäck, Maria. - : Figshare, 2019 BASE Show details 19 Evaluation of a structured skills training group for adolescents with attention deficit/hyperactivity disorder (ADHD) – study protocol of a randomised controlled trial ... Meyer, Jenny; Ramklint, Mia; Hallerbäck, Maria. - : Figshare, 2019 BASE Show details 20 Interprofessional Education and Collaboration (IPE/C) ... Moser, Albine; Faculty Working Group IPE/C. - : Zuyd University of Applied Sciences, 2019 BASE Show details Page: 1 2 3 4 5...9

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