Genetic IGF1R defects: new cases expand the spectrum of clinical features by Gonc, E. N., Ozon, Z. A., Oguz, S., Kabacam, S., Taskiran, E. Z., Kiper, P. O. S., Utine, G. E., Alikasifoglu, A., Kandemir, N., Boduroglu, O. K., Alikasifoglu, M.

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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders by 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

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Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome by Lorenz, Sybille, Lissewski, Christina, Simsek-Kiper, Pelin O, Alanay, Yasemin, Boduroglu, Koray, Zenker, Martin, Rosenberger, Georg

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An eight‐case 1q21 region series: novel aberrations and clinical variability with new features by Ceylan, A. C., Sahin, I., Erdem, H. B., Kayhan, G., Simsek‐Kiper, P. O., Utine, G. E., Percin, F., Boduroglu, K., Alikasifoglu, M.

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Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability by Taşkıran, E. Z., Karaosmanoğlu, B., Koşukcu, C., Ürel‐Demir, G., Akgün‐Doğan, Ö., Şimşek‐Kiper, P. Ö., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.

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PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents by Çelik, T, Simsek, PO, Sozen, T, Ozyuncu, O, Utine, GE, Talim, B, Yiğit, Ş, Boduroglu, K, Kamnasaran, D

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Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability by Oğuz, S., Arslan, U. E., Kiper, P. Ö. Ş., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.

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Clinical and molecular analysis of RASopathies in a group of Turkish patients by Şimşek-Kiper, PÖ, Alanay, Y, Gülhan, B, Lissewski, C, Türkyılmaz, D, Alehan, D, Çetin, M, Utine, GE, Zenker, M, Boduroğlu, K

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Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2 -related disorders by 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

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Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability by Utine, G.E., Kiper, P.Ö., Alanay, Y., Haliloğlu, G., Aktaş, D., Boduroğlu, K., Tunçbilek, E., Alikaşifoğlu, M.

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Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome by Utine, G.E., Akpınar, B., Arslan, U., Kiper, P.Ö.Ş., Volkan-Salancı, B., Alanay, Y., Aktaş, D., Haliloğlu, G., Oğuz, K.K., Boduroğlu, K., Alikaşifoğlu, M.

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