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Search Results - Simsek‐Kiper, P. O.
Search Results - Simsek‐Kiper, P. O.
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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.
Published in
Journal of intellectual disability research
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
by
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
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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
Published in
Clinical genetics
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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
Published in
Journal of bone and mineral research
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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
Published in
Human molecular genetics
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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.
Published in
Journal of intellectual disability research
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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
by
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
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Further delineation of the KAT6B molecular and phenotypic spectrum
by
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
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Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation
by
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
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10
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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
Get full text
Conference Proceeding
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11
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Café noir spots: a feature of familial progressive hyper- and hypopigmentation
by
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
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