Clinical and molecular analysis of RASopathies in a group of Turkish patients
Şimşek-Kiper, PÖ, Alanay, Y, Gülhan, B, Lissewski, C, Türkyılmaz, D, Alehan, D, Çetin, M, Utine, GE, Zenker, M, Boduroğlu, K
Published in Clinical genetics (01.02.2013)
Published in Clinical genetics (01.02.2013)
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Journal Article
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek‐Kiper, Pelin Ozlem, Nikkel, Sarah M, Ohashi, Hirofumi, Stevenson, Roger E, Ha, Thuong, Cavalcanti, Denise P, Miyahara, Hiroyuki, Skinner, Steven A, Aguirre, Miguel A, Akçören, Zühal, Utine, Gulen Eda, Chiu, Tillie, Shimizu, Kenji, Hammarsjö, Anna, Boduroglu, Koray, Moore, Hannah W, Louie, Raymond J, Arts, Peer, Merrihew, Allie N, Babic, Milena, Jackson, Matilda R, Papadogiannakis, Nikos, Lindstrand, Anna, Nordgren, Ann, Barnett, Christopher P, Scott, Hamish S, Chagin, Andrei S, Nishimura, Gen, Grigelioniene, Giedre
Published in Journal of bone and mineral research (01.05.2023)
Published in Journal of bone and mineral research (01.05.2023)
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Journal Article
Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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Journal Article
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M., Wieczorek, D.
Published in Human genetics (01.08.2013)
Published in Human genetics (01.08.2013)
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Journal Article
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida, Aritoshi, Simsek-Kiper, Pelin Özlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hülya, Utine, Gülen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2 -related disorders
Batkovskyte, D, McKenzie, F, Taylan, F, Simsek-Kiper, PO, Nikkel, SM, Ohashi, H, Miyahara, H, Eriksson, G, Ha, T, Utine, GE, Chiu, T, Shimizu, K, Hammarsjo, A, Boduroglu, K, Arts, P, Babic, M, Jackson, MR, Papadogiannakis, N, Lindstrand, A, Nordgren, A, Barnett, CP, Scott, HS, Chagin, AS, Nishimura, G, Grigelioniene, G
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
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