Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Study, D.D.D."'
Autor:
Schirwani, Schaida, Hauser, Natalie, Platt, Anna, Punj, Sumit, Prescott, Katrina, Canham, Natalie, study, D.D.D., Mansour, Sahar, Balasubramanian, Meena
Publikováno v:
In European Journal of Medical Genetics June 2020 63(6)
Publikováno v:
In European Journal of Medical Genetics May 2018 61(5):253-256
Publikováno v:
In European Journal of Medical Genetics May 2017 60(5):265-267
Autor:
Radley, J.A., O'Sullivan, R.B.G., Turton, S.E., Cox, H., Vogt, J., Morton, J., Jones, E., Smithson, S., Lachlan, K., Rankin, J., Clayton-Smith, J., Willoughby, J., Elmslie, F.F., Sansbury, F.H., Cooper, N., Study, D.D.D., Balasubramanian, M.
Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::084705d6cba2799a36d0f38fc5543c9a
Autor:
Zawerton, A., Yao, B., Yeager, J.P., Pippucci, T., Haseeb, A., Smith, J., Wischmann, L., Kuhl, S.J., Dean, J.C.S., Pilz, D.T., Holder, S.E., Study, D.D.D., University of Washington Center, M.G., McNeill, A., Graziano, C., Lefebvre, V.
SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::df680f64a1b0f52146cf4694714ac16c
https://eprints.whiterose.ac.uk/141344/8/2018.12.02_-_SOX4___ID_-_main_text_REVISED_-_no_tracking__1_.pdf
https://eprints.whiterose.ac.uk/141344/8/2018.12.02_-_SOX4___ID_-_main_text_REVISED_-_no_tracking__1_.pdf
Autor:
Yates, T.M., Ng, O.-H., Offiah, A.C., Willoughby, J., Berg, J.N., Study, D.D.D., Johnson, D.S.
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::82c73db5820c146fb5750b49714c82b1
Autor:
Martin, H.C., Jones, W.D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J.D., Jones, C.P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J.F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E.J., Akavvi, N., Balasubramanian, M., Dean, J., Horton, R., Hulbert, A., Johnson, D.S., Johnson, K., Kumar, D., Lynch, S.A., Mehta, S.G., Morton, J., Parker, M.J., Splitt, M., Turnpenny, P.D., Vasudevan, P.C., Wright, M., Bassett, A., Gerety, S.S., Wright, C.F., FitzPatrick, D.R., Firth, H.V., Hurles, M.E., Barrett, J.C., Study, D.D.D.
We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f06001fd12910e71af665d9abfa41f6a
https://eprints.whiterose.ac.uk/142383/3/DDD_Recessive.main_manuscript.revised.for_circulation.pdf
https://eprints.whiterose.ac.uk/142383/3/DDD_Recessive.main_manuscript.revised.for_circulation.pdf
Autor:
Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.
Publikováno v:
In Seizure: European Journal of Epilepsy March 2018 56:1-3
Autor:
Balasubramanian, M., Willoughby, J., Fry, A.E., Weber, A., Firth, H.V., Deshpande, C., Berg, J.N., Chandler, K., Metcalfe, K.A., Lam, W., Pilz, D., Tomkins, S., Study, D.D.D.
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c866431ec46fc9fdf1b8a9c6fa09070e
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