Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Samantha J Turner"'
Autor:
Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
Publikováno v:
medRxiv
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
Autor:
Sheena Reilly, Kerryn Saunders, Frédérique Liégeois, David Coman, Michael S. Hildebrand, Jozef Gecz, Himanshu Goel, Martin B. Delatycki, Melanie Bahlo, Ingrid E. Scheffer, Anne Baxter, Samantha J. Turner, Kristin A Rigbye, Michael Hayman, Alan Connelly, Sarah Barton, Matthew Coleman, Georgia A Paxton, Michael C Fahey, Simon E. Fisher, Ruth O Braden, David J. Amor, Thomas S. Scerri, Olivia van Reyk, Victoria E. Jackson, Amber Boys, Noni M Davis, Richard D. Webster, Bronwyn Parry-Fielder, Angela T Morgan, Alan Ma
Publikováno v:
Neurology, 94, 20, pp. e2148-e2167
Neurology, 94, e2148-e2167
Neurology
Neurology, 94, e2148-e2167
Neurology
ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained.
Autor:
Daisy G Y Thompson-Lake, Thomas S Scerri, Susan Block, Samantha J Turner, Sheena Reilly, Elaina Kefalianos, Alexandra F Bonthrone, Ingo Helbig, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand, Frédérique J Liégeois, Angela T Morgan
Publikováno v:
Brain
Developmental stuttering is a condition of speech dysfluency, characterized by pauses, blocks, prolongations and sound or syllable repetitions. It affects around 1% of the population, with potential detrimental effects on mental health and long-term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca915fb3cfe1ba68fc624bb196c6dc1
https://europepmc.org/articles/PMC9724773/
https://europepmc.org/articles/PMC9724773/
Autor:
Genie N. Giaimo, Samantha J. Turner
Publikováno v:
Journal of Writing Research. 11:131-162
Autor:
Angela T Morgan, Lindsay Pennington, Dinah Reddihough, Cristina Mei, Sheena Reilly, Fiona Mensah, Dhanooshini Kumaranayagam, Molly Bickerton, Samantha J. Turner
Aim To examine the frequency, characteristics, and factors associated with speech delay and disorder in a community sample of children with cerebral palsy (CP). Method Participants were 84 children (37 females, 47 males; aged between 4y 11mo–6y 6mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc7a39cc69348aea3b984f24c0f2972
https://acuresearchbank.acu.edu.au/item/8w9z0/speech-in-children-with-cerebral-palsy
https://acuresearchbank.acu.edu.au/item/8w9z0/speech-in-children-with-cerebral-palsy
Autor:
Samantha J. Turner, Rhonda Campbell, Adam P. Vogel, Bronwyn Parry-Fielder, Ingrid E. Scheffer, Angela T Morgan
Publikováno v:
Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP). 71(5-6)
Objective: The clinical course of childhood apraxia of speech (CAS) is poorly understood. Of the few longitudinal studies in the field, only one has examined adolescent outcomes in speech, language, and literacy. This study is the first to report lon
Publikováno v:
Worsman, F C F, Barakzai, S Z, de Bont, M P, Turner, S & Rubio-Martínez, L M 2018, ' Treatment of haemoperitoneum secondary to ruptured granulosa cell tumours in two mares ', Equine Veterinary Education . https://doi.org/10.1111/eve.12929
This report describes two cases of successful surgical management of granulosa cell tumours (GCT) in mares presenting with haemoperitoneum (HP). Controlled abdominal drainage was initially attempted in Case 1 but was not successful. A ventral midline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb50a35140000894ee1e0abc6c388a6
https://hdl.handle.net/20.500.11820/69d0d6e7-3601-4ab3-8cc9-a7152d293629
https://hdl.handle.net/20.500.11820/69d0d6e7-3601-4ab3-8cc9-a7152d293629
Autor:
Angela T Morgan, Marta Arpone, Samantha J. Turner, Ingrid E. Scheffer, Amy Brown, Vicki Anderson
Objective:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A.Methods:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcb40c5d403043805e652faf37087009
https://acuresearchbank.acu.edu.au/item/8wv9x/dysarthria-and-broader-motor-speech-deficits-in-dravet-syndrome
https://acuresearchbank.acu.edu.au/item/8wv9x/dysarthria-and-broader-motor-speech-deficits-in-dravet-syndrome
Autor:
Graeme D. Jackson, Ingrid E. Scheffer, Jozef Gecz, Melanie Bahlo, Alison Gardner, Richard J. Leventer, David A. Mackey, Thuong Ha, Samuel F. Berkovic, Samantha J. Turner, Renee Carroll, Mark A. Corbett, Jeremy D. Silver, Christopher P. Derry, Jim Stankovich
Publikováno v:
European journal of medical genetics. 60(8)
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full p
A 5-year-old Arabian mare was referred for the investigation of recent behavioural change, generalised stiffness, and owner-reported polyuria and polydipsia. Clinical examination revealed severe pain associated with palpation along the entire length
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::921afe517790ab14f19ef7922635fead