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Number of items: 6.

Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G. and Thorstensen, Wenche M. 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188 (1) , pp. 272-282. 10.1002/ajmg.a.62492
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Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth and Kleefstra, Tjitske 2021. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics 29 , pp. 625-636. 10.1038/s41431-020-00769-7
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Burke, Katherine Bernadette 2018. Array comparative genomic hybridisation and the newborn intensive care unit: Sociological perspectives on mainstreaming medical genetics. PhD Thesis, Cardiff University.
Item availability restricted.
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Burke, Katherine, Howard, Zoe and Kamath, Arveen 2017. Genetic and genomic investigations in the neonatal intensive care unit. Paediatrics and Child Health 27 (1) , pp. 23-27. 10.1016/j.paed.2016.08.001

Burke, Katherine and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101 , pp. 1048-1052. 10.1136/archdischild-2013-304109
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Burke, Katherine and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2015. Genetic screening. Henk, ten Have,, ed. Encyclopedia of Global Bioethics, Springer Reference,

This list was generated on Tue Mar 19 04:49:31 2024 GMT.