Zobrazeno 1 - 10
of 1 423
pro vyhledávání: '"The Deciphering Developmental Disorders Study"'
Autor:
Gazdagh, Gabriella1, Tobias, Edward S.1, ahmed, S. Faisal1, McGowan, Ruth1 ruthmcgowan@nhs.net
Publikováno v:
Sexual Development. Sep2016, Vol. 10 Issue 3, p130-135. 6p.
Publikováno v:
Sexual Development
A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac32ff236c51372ae7cdfded48ee2ba
https://doi.org/10.1159/000447958
https://doi.org/10.1159/000447958
Akademický článek
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Autor:
Bownass, L., Newbury-Ecob, R., Love, S., Urankar, K., Study, D., Vijayakumar, K., Majumdar, A.
Publikováno v:
In Neuromuscular Disorders October 2017 27 Supplement 2:S186-S186
Autor:
Ddd Study, Kathryn Urankar, R. Newbury-Ecob, Seth Love, Kayal Vijayakumar, L. Bownass, Anirban Majumdar
Publikováno v:
Neuromuscular Disorders. 27:S186
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f227d45014af37a3638f1eba10b9444f
https://doi.org/10.1016/j.nmd.2017.06.334
https://doi.org/10.1016/j.nmd.2017.06.334
Autor:
Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Publikováno v:
Science, 2018 Dec 01. 362(6419), 1161-1164.
Externí odkaz:
https://www.jstor.org/stable/26569195
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Autor:
Lyulcheva-Bennett, Ekaterina1,2 (AUTHOR) katya.bennett@lwh.nhs.uk, Kershaw, Christopher3 (AUTHOR), Baker, Eleanor3 (AUTHOR), Gillies, Stuart4 (AUTHOR), McCarthy, Emma4 (AUTHOR), Higgs, Jenny1 (AUTHOR), Canham, Natalie1 (AUTHOR), Hennigan, Dawn5 (AUTHOR), Parks, Chris5 (AUTHOR), Bennett, Daimark2,6 (AUTHOR) daimark.bennett@manchester.ac.uk
Publikováno v:
BMC Medical Genomics. 9/6/2024, Vol. 17 Issue 1, p1-6. 6p.
Akademický článek
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Autor:
Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
Publikováno v:
American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6
American journal of human genetics, vol 102, iss 6
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379
http://hdl.handle.net/1887/79379
