Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Marijcke W. M. Veltman"'
Autor:
Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall
Publikováno v:
Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum
Publikováno v:
Psychiatric Genetics. 15:243-254
Autism spectrum disorders (ASDs) have been linked with maternally derived duplications/triplications of chromosome 15q11-13 and therefore might occur more frequently in people with Prader-Willi syndrome (PWS) when due to uniparental disomy (UPD), tha
Autor:
Andrew Pickles, Patrick Bolton, Emanuela Medda, S.E. Roberts, Josie Browne, Marijcke W. M. Veltman, Sarah Curran, S. Thomas, Pak C. Sham
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :25-28
Autism (OMIM 209850) is a neurodevelopmental disorder with a significant genetic component of a complex nature. Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome critical region (PWACR) on chromosome 15 (q11-13) have been described in s
Autor:
Vanessa Moore, Patrick Bolton, N R Dennis, S.E. Roberts, Marijcke W. M. Veltman, Russell Thompson, Josie Brown, Ellen E. Craig
Publikováno v:
Journal of Autism and Developmental Disorders. 35:117-127
The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a pos
Autor:
Moira Stewart, Simon J. Griffin, Marijcke W. M. Veltman, Julie Grant, Susan Gillard, Ann Louise Kinmonth
Publikováno v:
The Annals of Family Medicine. 2:595-608
PURPOSE We wanted to identify published randomized trials of interventions to alter the interaction between patients and practitioners, develop taxonomies of the interventions and outcomes, and assess the evidence that such interventions improve pati
Autor:
Emma Weisblatt, Caroline E. Browne, Sally Goodson, Marijcke W. M. Veltman, Vanessa Moore, Josie Brown, Sheila A Youings, N. Simon Thomas, Patrick Bolton, Russell Thompson, Joanne R. Holmes, N R Dennis, Siân E. Roberts
Publikováno v:
Psychiatric Genetics. 14:131-137
Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres. Met
Autor:
Marijcke W. M. Veltman, Russell J. Thompson, Sian E. Roberts, N. Simon Thomas, Joyce Whittington, Patrick F. Bolton
Publikováno v:
European Child & Adolescent Psychiatry. 13:42-50
Publikováno v:
The Arts in Psychotherapy. 30:3-12
Identifying abused children using assessments and observations in the classroom: a preliminary study
Publikováno v:
Child Abuse Review. 12:315-334
The paper presents two pilot studies that attempt to identify maltreated children in the classroom. The aim of pilot study 1 was to determine whether six British physically abused children performed significantly worse than matched non-abused childr
Publikováno v:
Child Abuse Review. 11:19-37
This paper presents a systematic review that aims to identify studies using drawing techniques with maltreated children. The paper first introduces the relevant developmental theory relating to children's drawings and its application to practice. Stu