A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features von Soğukpınar, Merve, Karaosmanoğlu, Beren, Utine, Gülen Eda, Boduroğlu, Koray, Şimşek-Kiper, Pelin Özlem

Volltext

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features von Akalin, Akçahan, Grzeschik, Karl-Heinz, Utine, Eda, Boduroğlu, Koray, Simsek-Kiper, Pelin Özlem

Volltext

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families von Kolkiran, Abdulkerim, Şimşek-Kiper, Pelin Özlem, Topaloğlu Yasan, Göknur, Karaosmanoğlu, Beren, Taşkıran, Ekim, Utine, Gülen Eda, Tüz, Hakan H., Boduroğlu, Koray

Volltext

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients von Akalın, Akçahan, Ertuğrul, İlker, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray

Volltext

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy von Utine, G. Eda, Haliloğlu, Göknur, Salancı, Bilge, Çetinkaya, Arda, Kiper, P. Özlem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

Volltext

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women von Boduroğlu, Koray, Alanay, Yasemin, Koldan, Berrin, Tunçbilek, Ergül

Volltext

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease von Simsek Kiper, Pelin O, Saito, Hiroaki, Gori, Francesca, Unger, Sheila, Hesse, Eric, Yamana, Kei, Kiviranta, Riku, Solban, Nicolas, Liu, Jeff, Brommage, Robert, Boduroglu, Koray, Bonafé, Luisa, Campos-Xavier, Belinda, Dikoglu, Esra, Eastell, Richard, Gossiel, Fatma, Harshman, Keith, Nishimura, Gen, Girisha, Katta M, Stevenson, Brian J, Takita, Hiroyuki, Rivolta, Carlo, Superti-Furga, Andrea, Baron, Roland

Volltext

Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study von Bagcaz, Arda, Boduroglu, O. Koray, Basar, Koray

Volltext

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome von Kilic, Esra, Cetinkaya, Arda, Utine, Gülen Eda, Boduroğlu, Koray

Volltext

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

Volltext

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions von Akalın, Akçahan, Şimşek-Kiper, Pelin Ö., Taşkıran, Ekim, Utine, Gülen E., Boduroğlu, Koray

Volltext

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families von Soğukpınar, Merve, Utine, Gülen Eda, Boduroğlu, Koray, Şimşek-Kiper, Pelin Özlem

Volltext

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

Volltext

Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature von Akalın, Akçahan, Taskiran, Ekim Z., Şimşek‐Kiper, Pelin Özlem, Utine, Eda, Alanay, Yasemin, Özçelik, Uğur, Boduroğlu, Koray

Volltext

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta von Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah

Volltext

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

Volltext

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum von Ürel-Demir, Gizem, Aydın, Büşra, Karaosmanoğlu, Beren, Akgün-Doğan, Özlem, Taşkıran, Ekim Zihni, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray

Volltext

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features von Kındış, Erdem, Simsek‐Kiper, Pelin Özlem, Koşukcu, Can, Taşkıran, Ekim Z., Göçmen, Rahşan, Utine, Eda, Haliloğlu, Göknur, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

Volltext

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

Volltext

Syrian Children in Turkey: A Model of Action for National Pediatric Societies von Özmert, Elif N, Derman, Orhan, Bideci, Aysun, Okumuş, Nurullah, Boduroğlu, Koray, Bakkaloğlu, Sevcan, Hasanoğlu, Enver, Alden, Errol

Volltext