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43 results for Kiper,+Pelin+Özlem+Simsek

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ArticlesPeer ReviewedFull Text
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
Author / Creator:Arman, Ahmet ; Bereket, Abdullah ; Coker, Ajda ; Kiper, Pelin Özlem Şimşek ; Güran, Tülay ; Özkan, Behzat ; Atay, Zeynep ; Akçay, Teoman ; Haliloglu, Belma ; Boduroglu, Koray ; Alanay, Yasemin ; Turan, Serap
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.60-60, Article 60
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Author / Creator:Bramswig, Nuria C. ; Lüdecke, Hermann-Josef ; Alanay, Yasemin ; Albrecht, Beate ; Barthelmie, Alexander ; Boduroglu, Koray ; Braunholz, Diana ; Caliebe, Almuth ; Chrzanowska, Krystyna H. ; Czeschik, Johanna Christina ; Endele, Sabine ; Graf, Elisabeth ; Guillén-Navarro, Encarna ; Kiper, Pelin Özlem Simsek ; López-González, Vanesa ; Parenti, Ilaria ; Pozojevic, Jelena ; Utine, Gulen Eda ; Wieland, Thomas ; Kaiser, Frank J. ; Wollnik, Bernd ; Strom, Tim M. ; Wieczorek, Dagmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2015-06, Vol.134 (6), p.553-568
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Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Author / Creator:Van Damme, Tim ; Colige, Alain ; Syx, Delfien ; Giunta, Cecilia ; Lindert, Uschi ; Rohrbach, Marianne ; Aryani, Omid ; Alanay, Yasemin ; Simsek-Kiper, Pelin Özlem ; Kroes, Hester Y. ; Devriendt, Koen ; Thiry, Marc ; Symoens, Sofie ; De Paepe, Anne ; Malfait, Fransiska
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2016-09, Vol.18 (9), p.882-891
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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
Author / Creator:Daşar, Tuğba ; Gönen, Hasibe Nesligül ; Kösemehmetoğlu, Kemal ; Tekşam, Özlem ; Boduroğlu, Koray ; Utine, Gülen Eda ; Şimşek Kiper, Pelin Özlem
Publisher:Ankara: Akdema Informatics and Publishing
Journal title:Turkish journal of pediatrics, 2024-05, Vol.66 (2), p.205-214
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A very rare case of a newborn with tetrasomy 9p and literature review
Author / Creator:Süleyman, Merve ; Oğuz, Sümeyra ; Kaykı, Gözdem ; Çelik, Hasan Tolga ; Şimsek-Kiper, Pelin Özlem ; Utine, Gülen Eda ; Yiğit, Şule
Publisher:Ankara: Akdema Informatics and Publishing
Journal title:Turkish journal of pediatrics, 2022-01, Vol.64 (1), p.171-178
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Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked
Author / Creator:Soltanova, Gulare ; Avcu Oral, Nihan ; Gümrük, Fatma ; Şimşek Kiper, Pelin Özlem ; Ünal, Şule
Publisher:Turkey: Turkish Pediatrics Association
Journal title:Turkish archives of pediatrics, 2024-07, Vol.59 (4), p.364-369
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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
Author / Creator:Kolkıran, Abdulkerim ; Karaosmanoğlu, Beren ; Taşkıran, Zihni Ekim ; Şimşek-Kiper, Pelin Özlem ; Utine, Gülen Eda
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2021-11, Vol.63 (6), p.1091-1096
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Peters Plus syndrome: a recognizable clinical entity
Author / Creator:Demir, Gizem Ürel ; Lafcı, Naz Güleray ; Doğan, Özlem Akgün ; Şimşek-Kiper, Pelin Özlem ; Utine, Gülen Eda
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2020-01, Vol.62 (1), p.136-140
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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
Author / Creator:Daşar, Tuğba ; Donkervoort, Sandra ; Şimşek Kiper, Pelin Özlem ; Göçmen, Rahşan ; Utine, Gülen Eda ; Boduroğlu, Koray ; Bonnemann, Carsten ; Haliloğlu, Göknur
Publisher:Izmir: Galenos Publishing House
Journal title:The journal of pediatric research, 2022-09, Vol.9 (3), p.297-301
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Author / Creator:Bögershausen, Nina ; Tsai, I-Chun ; Pohl, Esther ; Kiper, Pelin Özlem Simsek ; Beleggia, Filippo ; Percin, E. Ferda ; Keupp, Katharina ; Matchan, Angela ; Milz, Esther ; Alanay, Yasemin ; Kayserili, Hülya ; Liu, Yicheng ; Banka, Siddharth ; Kranz, Andrea ; Zenker, Martin ; Wieczorek, Dagmar ; Elcioglu, Nursel ; Prontera, Paolo ; Lyonnet, Stanislas ; Meitinger, Thomas ; Stewart, A. Francis ; Donnai, Dian ; Strom, Tim M. ; Boduroglu, Koray ; Yigit, Gökhan ; Li, Yun ; Katsanis, Nicholas ; Wollnik, Bernd
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-09, Vol.125 (9), p.3585-3599
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A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures
Author / Creator:Bekircan-Kurt, Can Ebru ; Şimşek-Kiper, Pelin Özlem ; Boduroğlu, Koray ; Dericioğlu, Neşe
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2016-01, Vol.58 (1), p.97-100
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A mutation screen in patients with Kabuki syndrome
Author / Creator:Li, Yun ; Bögershausen, Nina ; Alanay, Yasemin ; Simsek Kiper, Pelin Özlem ; Plume, Nadine ; Keupp, Katharina ; Pohl, Esther ; Pawlik, Barbara ; Rachwalski, Martin ; Milz, Esther ; Thoenes, Michaela ; Albrecht, Beate ; Prott, Eva-Christina ; Lehmkühler, Margret ; Demuth, Stephanie ; Utine, Gülen Eda ; Boduroglu, Koray ; Frankenbusch, Katja ; Borck, Guntram ; Gillessen-Kaesbach, Gabriele ; Yigit, Gökhan ; Wieczorek, Dagmar ; Wollnik, Bernd
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2011-12, Vol.130 (6), p.715-724
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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report
Author / Creator:Şahin, Ezgi Aysu ; Taşkıran, Ekim Zihni ; Kiper, Pelin Özlem Şimşek ; Aydın, Burça ; Utine, Eda
Publisher:London: BioMed Central
Journal title:Journal of medical case reports, 2022-07, Vol.16 (1), p.1-306, Article 306
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Celiac disease in Williams-Beuren syndrome
Author / Creator:Simşek-Kiper, Pelin Ozlem ; Sahin, Yavuz ; Arslan, Umut ; Alanay, Yasemin ; Boduroğlu, Koray ; Orhan, Diclehan ; Ozen, Hasan ; Unite, Gülen Eda
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2014-03, Vol.56 (2), p.154-159
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Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
Author / Creator:Ürel-Demir, Gizem ; Simsek-Kiper, Pelin Ozlem ; Akgün-Doğan, Özlem ; Göçmen, Rahşan ; Wang, Zheng ; Matsumoto, Naomichi ; Miyake, Noriko ; Utine, Gülen Eda ; Nishimura, Gen ; Ikegawa, Shiro ; Boduroglu, Koray
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-09, Vol.63 (9), p.1003-1007
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Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly
Author / Creator:Takcı, Sahin ; Korkmaz, Ayşe ; Simşek-Kiper, Pelin Ozlem ; Utine, Gülen Eda ; Boduroğlu, Koray ; Yurdakök, Murat
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2012-07, Vol.54 (4), p.440-443
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Emergency room management of acute bronchiolitis: a randomized trial of nebulized epinephrine
Author / Creator:Simşek-Kiper, Pelin Ozlem ; Kiper, Nural ; Hasçelik, Gülşen ; Dolgun, Anil ; Yalçin, Ebru ; Doğru-Ersöz, Deniz ; Ozçelik, Uğur
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2011-11, Vol.53 (6), p.651-660
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Anauxetic dysplasia: A rare clinical entity
Author / Creator:Akgün-Doğan, Özlem ; Şimsek-Kiper, Pelin Özlem ; Utine, Gülen Eda ; Boduroğlu, Koray
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2018-01, Vol.60 (1), p.89-93
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A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype
Author / Creator:Simşek-Kiper, Pelin Ozlem ; Utine, Gülen Eda ; Alanay, Yasemin ; Aktaş, Dilek ; Alikaşifoğlu, Mehmet ; Boduroğlu, Koray
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2011-09, Vol.53 (5), p.558-560
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Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome
Author / Creator:Bilgin, Burçak ; Kabaçam, Serkan ; Taşkıran, Ekim ; Şimşek-Kiper, Pelin Özlem ; Alanay, Yasemin ; Boduroğlu, Koray ; Utine, Gülen Eda
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2018, Vol.60 (5), p.506-513
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Showing 1 to 20 of 43 results

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

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Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome

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A very rare case of a newborn with tetrasomy 9p and literature review

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Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked

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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma

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Peters Plus syndrome: a recognizable clinical entity

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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

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A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

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A mutation screen in patients with Kabuki syndrome

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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

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Celiac disease in Williams-Beuren syndrome

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Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

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Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly

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Emergency room management of acute bronchiolitis: a randomized trial of nebulized epinephrine

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Anauxetic dysplasia: A rare clinical entity

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A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

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Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

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