Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
Mollaoğlu, Ezgi, Uludağ Alkaya, Dilek, Yıldız, Ceren Ayça, Kasap, Buşra, Tüysüz, Beyhan
Published in Clinical genetics (01.05.2023)
Published in Clinical genetics (01.05.2023)
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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
Tüysüz, Beyhan, Kasap, Büşra, Sarıtaş, Merve, Alkaya, Dilek Uludağ, Bozlak, Serdar, Kıykım, Ayça, Durmaz, Asude, Yıldırım, Timur, Akpınar, Evren, Apak, Hilmi, Vural, Mehmet
Published in Bone (New York, N.Y.) (01.02.2023)
Published in Bone (New York, N.Y.) (01.02.2023)
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Journal Article
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients
Tüysüz, Beyhan, Bozlak, Serdar, Uludağ Alkaya, Dilek, Ocak, Süheyla, Kasap, Büşra, Sunamak Çifçi, Evrim, Seker, Ali, Bayhan, Ilhan Avni, Apak, Hilmi
Published in Cancers (01.03.2023)
Published in Cancers (01.03.2023)
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Journal Article
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients
Güneş, Nilay, Yeşil, Gözde, Geyik, Filiz, Kasap, Büşra, Celkan, Tiraje, Kebudi, Rejin, Tüysüz, Beyhan
Published in Annals of human genetics (01.09.2021)
Published in Annals of human genetics (01.09.2021)
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Journal Article
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
Tüysüz, Beyhan, Kasap, Büşra, Uludağ Alkaya, Dilek, Alp Ünkar, Zeynep, Köseoğlu, Pınar, Geyik, Filiz, Özer, Emre, Önal, Hasan, Gezdirici, Alper, Ercan, Oya
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Journal Article
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants
Tüysüz, Beyhan, Alp Ünkar, Zeynep, Turan, Hande, Gezdirici, Alper, Uludağ Alkaya, Dilek, Kasap, Buşra, Yeşil, Gözde, Vural, Mehmet, Ercan, Oya
Published in European journal of medical genetics (01.12.2021)
Published in European journal of medical genetics (01.12.2021)
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Journal Article
A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features
Bozlak, Serdar, Uludağ Alkaya, Dilek, Kasap, Büşra, Yüksel Ülker, Aylin, Yıldız, Ceren Ayça, Altındağ, Veysel, Ülkersoy, İpek, Çifçi Sunamak, Evrim, Dedeoğlu, Reyhan, Tüysüz, Beyhan
Published in Turkish archives of pediatrics (01.03.2023)
Published in Turkish archives of pediatrics (01.03.2023)
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Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz, Beyhan, Uludag Alkaya, Dilek, Geyik, Filiz, Alaylıoğlu, Merve, Kasap, Busra, Kurugoğlu, Sebuh, Akman, Yunus Emre, Vural, Mehmet, Bilguvar, Kaya
Published in Journal of medical genetics (01.08.2023)
Published in Journal of medical genetics (01.08.2023)
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