Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Shu Yau"'
Autor:
Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatm
Externí odkaz:
https://doaj.org/article/2ba7db3ffb1d4355907a9d8ece8ef189
Autor:
Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome
Externí odkaz:
https://doaj.org/article/f48e1806fb4145e098138ac8ad1585b9
Autor:
Regina Vontell, Veena G. Supramaniam, Alice Davidson, Claire Thornton, Andreas Marnerides, Muriel Holder-Espinasse, Suzanne Lillis, Shu Yau, Mattias Jansson, Henrik E. Hagberg, Mary A. Rutherford
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 anomalies in offspring include agenesis of the corpus callosum (ACC) and neuronal heterotopia whic
Externí odkaz:
https://doaj.org/article/c70e40fd5db3467286d5de2a9f649edb
Autor:
Selene Petit, Lyndsey Nickels, Jon Brock, Nadene Dermody, Alexandra Woolgar, Anina N. Rich, Nicholas A. Badcock, Shu Yau, Elaine Schmidt, Denise Moerel, Tijl Grootswagers
Publikováno v:
Journal of Speech, Language, and Hearing Research
J Speech Lang Hear Res
J Speech Lang Hear Res
Purpose We aimed to develop a noninvasive neural test of language comprehension to use with nonspeaking children for whom standard behavioral testing is unreliable (e.g., minimally verbal autism). Our aims were threefold. First, we sought to establis
Autor:
Melita Irving, Moira Cheung, Ana Beleza-Meireles, Christine Hall, Yogen Patel, S. Lillis, Alessandra Cocca, Shu Yau, Jameela Sheikh, Alistair Calder, Elizabeth Morley, Ataf H. Sabir, Mattias Jansson, Amaka C. Offiah
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a884fa2654269375be8b4d58be6ff4
https://eprints.whiterose.ac.uk/176215/6/s12920-021-00993-0.pdf
https://eprints.whiterose.ac.uk/176215/6/s12920-021-00993-0.pdf
Autor:
Ataf H Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D Calder, Ana Beleza-Meireles, Moira S Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M Hall, Amaka C Offiah, Melita Irving
BACKGROUNDSkeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment techno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef8a2642989eb7a89a221d4fc79bc130
https://doi.org/10.21203/rs.3.rs-96770/v1
https://doi.org/10.21203/rs.3.rs-96770/v1
Publikováno v:
Educational Neuroscience ISBN: 9781003016830
This chapter discusses the practical implementation of the concepts requires them to become part of the reflective processes of the students. Teachers are a significant factor contributing to individual differences in the educational achievement, sch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f0d66450cd2be5f824f2de6eb16eeb4
https://doi.org/10.4324/9781003016830-23
https://doi.org/10.4324/9781003016830-23
Autor:
Francisco J. Ruíz-Martínez, David Saldaña, Carlos M. Gómez, C. Ellie Wilson, Elena I. Rodríguez-Martínez, Shu Yau
Publikováno v:
Journal of autism and developmental disorders. 50(2)
Passive testing of auditory function is an important objective in individuals with ASD due to known difficulties in understanding and/or following task instructions. In present study the habituation to standard tones following deviants and the audito
Autor:
Shu Yau, Lee Silcock, Eugene Oteng-Ntim, Yvonne Daniel, Caroline Mackie Ogilvie, Kathy Mann, Joo Wook Ahn, Julia van Campen
Publikováno v:
British journal of haematologyReferences. 190(1)
Sickle cell disease (SCD) is the most common genetic haematological disorder. The availability of non-invasive prenatal diagnosis (NIPD) is predicted to increase uptake of prenatal diagnosis for SCD, as it has no perceived procedure-related miscarria