Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

Autor: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth

Publikováno v: Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Hempel, M, Bierhals, T, Lessel, D, The DDD study, Johannsen, J, Arboleda, V A & Newbury-Ecob, R 2020, ' Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2) ', Genetics in Medicine, vol. 22, no. 11, pp. 1920 . https://doi.org/10.1038/s41436-020-00944-7

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::6719d57da365c0aa00af023efd977d2c
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410

CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.

Autor: Blomhoff, Anne¹ anne.blomhoff@medisin.uio.no, Kemp, E. Helen², Gawkrodger, David J.³, Weetman, Anthony P.², Husebye, Eystein S.⁴, Akselsen, Hanne E.¹, Lie, Benedicte A.⁵, Undlien, Dag E.¹

Publikováno v: Pigment Cell Research. Feb2005, Vol. 18 Issue 1, p55-58. 4p. 1 Chart.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Autor: Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug K, Blomhoff, Anne, Helle, Johan R, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik

Publikováno v: Orphanet Jo

Externí odkaz: http://hdl.handle.net/10852/46993
https://www.duo.uio.no/bitstream/handle/10852/46993/1/13023_2012_Article_553.pdf

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