Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience von Simsek-Kiper, Pelin Ozlem, Urel-Demir, Gizem, Taskiran, Ekim Z., Arslan, Umut Ece, Nur, Banu, Mihci, Ercan, Haliloglu, Mithat, Alanay, Yasemin, Utine, Gulen Eda, Boduroglu, Koray

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Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis von Xue, Jing-Yi, Simsek-Kiper, Pelin O., Utine, Gulen Eda, Yan, Li, Wang, Zheng, Taskiran, Ekim Z., Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Nishimura, Gen, Matsumoto, Naomichi, Miyake, Noriko, Ikegawa, Shiro, Guo, Long

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Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience von Kahraman, Ayca Burcu, Simsek‐Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray

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Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3 von Simsek‐Kiper, Pelin Ozlem, Jacob, Prince, Upadhyai, Priyanka, Taşkıran, Zihni Ekim, Guleria, Vishal S., Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Bhavani, Gandham S., Kausthubham, Neethukrishna, Shah, Hitesh, Utine, Gulen Eda, Boduroglu, Koray, Girisha, Katta M.

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes von Putoux, Audrey, Thomas, Sophie, Coene, Karlien L M, Davis, Erica E, Alanay, Yasemin, Ogur, Gönül, Uz, Elif, Buzas, Daniela, Gomes, Céline, Patrier, Sophie, Bennett, Christopher L, Elkhartoufi, Nadia, Frison, Marie-Hélène Saint, Rigonnot, Luc, Joyé, Nicole, Pruvost, Solenn, Utine, Gulen Eda, Boduroglu, Koray, Nitschke, Patrick, Fertitta, Laura, Thauvin-Robinet, Christel, Munnich, Arnold, Cormier-Daire, Valérie, Hennekam, Raoul, Colin, Estelle, Akarsu, Nurten Ayse, Bole-Feysot, Christine, Cagnard, Nicolas, Schmitt, Alain, Goudin, Nicolas, Lyonnet, Stanislas, Encha-Razavi, Férechté, Siffroi, Jean-Pierre, Winey, Mark, Katsanis, Nicholas, Gonzales, Marie, Vekemans, Michel, Beales, Philip L, Attié-Bitach, Tania

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Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2 von Akalın, Akçahan, Ayaz, Ercan, Soğukpınar, Merve, Avcı‐Durmuşalioğlu, Enise, Ürel‐Demir, Gizem, Yıldız, Adalet Elçin, Atik, Tahir, Elcioglu, Nursel H., Eda Utine, Gulen, Şimşek‐Kiper, Pelin Özlem

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A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia von Şimşek‐Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Taşkıran, Ekim Zihni, Türer, Özlem Boybeyi, Utine, Gülen Eda, Soyer, Tutku

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Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea? von Hizal, Mina, Satırer, Ozlem, Polat, Sanem Eryilmaz, Tural, Dilber Ademhan, Ozsezen, Beste, Sunman, Birce, Karahan, Sevilay, Emiralioglu, Nagehan, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Yalcin, Ebru, Dogru, Deniz, Kiper, Nural, Ozcelik, Ugur

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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features von Akalın, Akçahan, Şimşek‐Kiper, Pelin Özlem, Taşkıran, Ekim Z., Karaosmanoğlu, Beren, Utine, Gülen Eda, Boduroğlu, Koray

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Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants? von Nayır Büyükşahin, Halime, Emiralioğlu, Nagehan, Yalçın, Ebru, Ozcan, H. Nursun, Oğuz, Berna, Utine, Gülen Eda, Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Orhan, Diclehan, Unal, Sule, Güzelkaş, İsmail, Alboğa, Didem, Doğru, Deniz, Özçelik, Uğur, Kiper, Nural

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Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts von Buers, Insa, Persico, Ivana, Schöning, Lara, Nitschke, Yvonne, Di Rocco, Maja, Loi, Angela, Sahi, Puneet Kaur, Utine, Gulen Eda, Bayraktar‐Tanyeri, Bilge, Zampino, Giuseppe, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

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Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome von Simsek‐Kiper, Pelin Ozlem, Taskiran, Ekim, Kosukcu, Can, Arslan, Umut Ece, Cormier‐Daire, Valérie, Gonc, Nazlı, Ozon, Alev, Alikasifoglu, Ayfer, Kandemir, Nurgun, Utine, Gulen Eda, Alanay, Yasemin, Alikasifoglu, Mehmet, Boduroglu, Koray

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Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings von Soyer, Tutku, Karaosmanoglu, Beren, Taskiran, Ekim Z., Kiper, Pelin Özlem Şimşek, Karnak, İbrahim, Boduroğlu, Koray, Utine, Gülen Eda

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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered von Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin

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A mutation screen in patients with Kabuki syndrome von 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

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Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing von Taylan Şekeroğlu, Hande, Utine, Gülen Eda

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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum von Güleray, Naz, Koşukcu, Can, Oğuz, Sümeyra, Ürel Demir, Gizem, Taşkıran, Ekim Z., Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Alanay, Yasemin, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa von Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group von Ozon, Z. Alev, Alikasifoglu, Ayfer, Kandemir, Nurgun, Aydin, Busra, Gonc, E. Nazli, Karaosmanoglu, Beren, Celik, Nur Berna, Eroglu‐Ertugrul, Nesibe G., Taskiran, Ekim Z., Haliloglu, Goknur, Oguz, Kader Karli, Kiper, Pelin Ozlem, Yalnizoglu, Dilek, Utine, Gulen Eda, Alikasifoglu, Mehmet

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