Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B, Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, Lena, Nayak, Shalini S, Shukla, Anju, Girisha, Katta Mohan, Le Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, Reversade, Bruno
Published in Nature (London) (01.09.2018)
Published in Nature (London) (01.09.2018)
Get full text
Journal Article
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B, Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, Lena, Nayak, Shalini S, Shukla, Anju, Girisha, Katta Mohan, Le Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, Reversade, Bruno
Published in Nature (London) (01.05.2018)
Published in Nature (London) (01.05.2018)
Get full text
Journal Article
Array-CGH analizlerinde saptanan de novo değişimlere klinik genetik yaklaşım
Kumbasar,Gökçe, Toksoy,Güven, Başaran,Seher, Karaman,Birsen
Published in Gazi tıp dergisi (01.04.2019)
Published in Gazi tıp dergisi (01.04.2019)
Get full text
Journal Article
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure
Berkay, Ezgi Gizem, Şoroğlu, Can Veysel, Kalaycı, Tuğba, Uyguner, Zehra Oya, Akçapınar, Günseli Bayram, Başaran, Seher
Published in Molecular genetics and genomics : MGG (2023)
Published in Molecular genetics and genomics : MGG (2023)
Get full text
Journal Article
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Çaylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Hafiz, Gunter, Başerer, Nermin, Heister, Angelien J.G.M., Hennies, Hans C., Nürnberg, Peter, Başaran, Seher, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Wollnik, Bernd, Kremer, Hannie
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
Get full text
Journal Article
Dandy-Walker Malformation: A Review of 78 Cases Diagnosed by Prenatal Sonography
Has, Recep, Ermiş, Hayri, Yüksel, Atıl, Ibrahimoğlu, Lem’i, Yildirim, Alkan, Sezer, Hande Delier, Başaran, Seher
Published in Fetal diagnosis and therapy (01.07.2004)
Published in Fetal diagnosis and therapy (01.07.2004)
Get full text
Journal Article
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Turgut, Gozde Tutku, Altunoglu, Umut, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kalaycı, Tuğba, Toksoy, Guven, Avcı, Şahin, Yıldırım, Behiye Tuğçe, Sayın, Gözde Yeşil, Kalelioglu, Ibrahim Halil, Karaman, Birsen, Has, Recep, Başaran, Seher, Yuksel, Atil, Kayserili, Hülya, Uyguner, Zehra Oya
Published in Clinical genetics (01.06.2024)
Published in Clinical genetics (01.06.2024)
Get full text
Journal Article
Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center
Sarac Sivrikoz, Tugba, Basaran, Seher, Has, Recep, Karaman, Birsen, Kalelioglu, Ibrahim Halil, Kirgiz, Melike, Altunoglu, Umut, Yuksel, Atil
Published in Archives of gynecology and obstetrics (01.02.2022)
Published in Archives of gynecology and obstetrics (01.02.2022)
Get full text
Journal Article
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype
Turgut, Gozde Tutku, Altunoglu, Umut, Sivrikoz, Tugba Sarac, Toksoy, Guven, Kalaycı, Tuğba, Avcı, Şahin, Karaman, Birsen, Gulec, Cagri, Başaran, Seher, Sayın, Gözde Yeşil, Kayserili, Hulya, Uyguner, Zehra Oya
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
Get full text
Journal Article
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Kardelen, Aslı Derya, Najafli, Adam, Baş, Firdevs, Karaman, Birsen, Toksoy, Güven, Poyrazoğlu, Şükran, Avcı, Şahin, Altunoğlu, Umut, Yavaş Abalı, Zehra, Öztürk, Ayşe Pınar, Karakılıç Özturan, Esin, Başaran, Seher, Darendeliler, Feyza, Uyguner, Z Oya
Published in Journal of clinical research in pediatric endocrinology (01.12.2023)
Published in Journal of clinical research in pediatric endocrinology (01.12.2023)
Get full text
Journal Article
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey
Kalayci, Tugba, Altunoglu, Umut, Çorbacioglu Esmer, Aytul, Avcı, Şahin, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kalelioğlu, İbrahim, Has, Recep, Uyguner, Zehra Oya, Yüksel, Atıl, Başaran, Seher, Kayserili, Hülya
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
Get full text
Journal Article
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
Baş, Firdevs, Toksoy, Güven, Ergun-Longmire, Berrin, Uyguner, Zehra Oya, Abalı, Zehra Yavaş, Poyrazoğlu, Şükran, Karaman, Volkan, Avcı, Şahin, Altunoğlu, Umut, Bundak, Ruveyde, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza
Published in The Journal of steroid biochemistry and molecular biology (01.07.2018)
Published in The Journal of steroid biochemistry and molecular biology (01.07.2018)
Get full text
Journal Article
Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey
Emekli, Inci, Tepgeç, Fatih, Samancı, Bedia, Toksoy, Güven, Hasanoğulları Kına, Gizem, Tüfekçioğlu, Zeynep, Başaran, Seher, Bilgiç, Başar, Gürvit, İ. Hakan, Emre, Murat, Uyguner, Zehra Oya, Hanagasi, Hasmet A.
Published in Parkinsonism & related disorders (01.12.2021)
Published in Parkinsonism & related disorders (01.12.2021)
Get full text
Journal Article
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya
Published in Frontiers in genetics (12.06.2023)
Published in Frontiers in genetics (12.06.2023)
Get full text
Journal Article
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza
Published in Journal of clinical research in pediatric endocrinology (01.06.2022)
Published in Journal of clinical research in pediatric endocrinology (01.06.2022)
Get full text
Journal Article
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
Kardelen, Aslı Derya, Toksoy, Güven, Baş, Firdevs, Yavaş Abalı, Zehra, Gençay, Genco, Poyrazoğlu, Şükran, Bundak, Rüveyde, Altunoğlu, Umut, Avcı, Şahin, Najaflı, Adam, Uyguner, Oya, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza
Published in Journal of clinical research in pediatric endocrinology (01.09.2018)
Published in Journal of clinical research in pediatric endocrinology (01.09.2018)
Get full text
Journal Article
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
Basaran, Seher, Has, Recep, Kalelioglu, Ibrahim Halil, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kirgiz, Melike, Dehgan, Tahir, Kalayci, Tugba, Ozsait Selcuk, Bilge, Miny, Peter, Yuksel, Atil
Published in Genes (01.12.2022)
Published in Genes (01.12.2022)
Get full text
Journal Article
INTER-POPULATION COMPARISONS AND THE IMPORTANCE IN INFECTIOUS DISEASES OF THE IRF7, TBK1, IFNAR1, IFNAR2 AND TLR3 GENE VARIANTS IN TURKISH INDIVIDUALS
Karacan, Aslı, Toksoy, Güven, Uyguner, Zehra, Karaman, Birsen, Başaran, Seher, Bayrak, Ayşe
Published in Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi (10.05.2022)
Published in Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi (10.05.2022)
Get full text
Journal Article