Zoekresultaten - Seeley, Andrea H.

Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review door Lynch, Conor P., Patel, Mira, Seeley, Andrea H., Seeley, Mark A.

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Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte door Quinonez, Shane C., Seeley, Andrea H., Seeterlin, Mary, Stanley, Eleanor, Ahmad, Ayesha

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Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion door Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.

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Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency door Quinonez, Shane C., Seeley, Andrea H., Lam, Cindy, Glover, Thomas W., Barshop, Bruce A., Keegan, Catherine E.

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes door Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome door Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin

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