An eight‐case 1q21 region series: novel aberrations and clinical variability with new features
Ceylan, A. C., Sahin, I., Erdem, H. B., Kayhan, G., Simsek‐Kiper, P. O., Utine, G. E., Percin, F., Boduroglu, K., Alikasifoglu, M.
Published in Journal of intellectual disability research (01.06.2019)
Published in Journal of intellectual disability research (01.06.2019)
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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 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
PARENTAL FACTORS IN PRENATAL DECISION MAKING AND THE IMPACT OF PRENATAL GENETIC COUNSELING: A STUDY ON TURKISH FAMILIES
SIMSEK-KIPER, P. Ö, UTINE, G. E, VOLKAN-SALANCI, B, ALANAY, Y, AKTAS, D, ALIKASIFOGLU, M, BODUROGLU, K, TUNCBILEK, E
Published in Genetic counseling (2014)
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Published in Genetic counseling (2014)
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
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz, Sybille, Lissewski, Christina, Simsek-Kiper, Pelin O, Alanay, Yasemin, Boduroglu, Koray, Zenker, Martin, Rosenberger, Georg
Published in Human molecular genetics (15.04.2013)
Published in Human molecular genetics (15.04.2013)
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Journal Article
Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability
Taşkıran, E. Z., Karaosmanoğlu, B., Koşukcu, C., Ürel‐Demir, G., Akgün‐Doğan, Ö., Şimşek‐Kiper, P. Ö., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.
Published in Journal of intellectual disability research (01.06.2021)
Published in Journal of intellectual disability research (01.06.2021)
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Journal Article
Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation
Gülseren, D., Güleray, N., Akgün‐Doğan, Ö., Şimşek‐Kiper, P.Ö., Utine, E.G., Alikaşifoğlu, M., Ersoy‐Evans, S.
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2020)
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2020)
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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 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)
Conference Proceeding
Café noir spots: a feature of familial progressive hyper- and hypopigmentation
Gülseren, D, Güleray, N, Akgün-Doğan, Ö, Şimşek-Kiper, P Ö, Utine, E G, Alikaşifoğlu, M, Ersoy-Evans, S
Published in Journal of the European Academy of Dermatology and Venereology : JEADV (01.02.2020)
Published in Journal of the European Academy of Dermatology and Venereology : JEADV (01.02.2020)
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