Congenital contractural arachnodactyly (Beals syndrome)

od Tunçbilek, Ergül, Alanay, Yasemin
Izdano 2006

Response to Shaheen et al.

od Alanay, Yasemin, Krakow, Deborah
Izdano 2010

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

od Alanay, Yasemin, Lachman, Ralph S.
Izdano 2011

Laboratory Genetic Testing in Clinical Practice

od Cogulu, Ozgur, Alanay, Yasemin, Toruner, Gokce A.
Izdano 2013

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

od Bozkurt, Tugce, Alanay, Yasemin, Isik, Ugur, Sezerman, Ugur
izdano v BMC Med Genomics (2021)

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

od Saygı, Ceren, Alanay, Yasemin, Sezerman, Uğur, Yenenler, Aslı, Özören, Nesrin
izdano v BMC Med Genet (2019)

Intrauterine Cataract Diagnosis and Follow-up

od Aksay, Sevinç, Bildirici, İbrahim, Coşar, Cemile Banu, Alanay, Yasemin, Ciğercioğulları, Engin
izdano v Turk J Ophthalmol (2020)

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

od Demirbilek, Hüseyin, Alanay, Yasemin, Alikaşifoğlu, Ayfer, Topçu, Meral, Mornet, Etienne, Özön, Alev, Kandemir, Nurgün
Izdano 2012

Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Retrospective and Prospective Analysis

od Krakow, Deborah, Alanay, Yasemin, Rimoin, Lauren P., Lin, Victoria, Wilcox, William R., Lachman, Ralph S., Rimoin, David L.
Izdano 2008

Prepubertal Unilateral Gynecomastia: Report of 2 Cases

od Demirbilek, Hüseyin, Bacak, Gökhan, Baran, Rıza Taner, Avcı, Yahya, Baran, Ahmet, Keleş, Ayşenur, Özbek, Mehmet Nuri, Alanay, Yasemin, Hussain, Khalid
izdano v J Clin Res Pediatr Endocrinol (2014)

XYLT1 Mutations in Desbuquois Dysplasia Type 2

od Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie
Izdano 2014

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

od Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, Mortier, Geert
Izdano 2009

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

od Lausch, Ekkehart, Hermanns, Pia, Farin, Henner F., Alanay, Yasemin, Unger, Sheila, Nikkel, Sarah, Steinwender, Christoph, Scherer, Gerd, Spranger, Jürgen, Zabel, Bernhard, Kispert, Andreas, Superti-Furga, Andrea
Izdano 2008

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

od 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
Izdano 2014

A Chaperone Complex Formed by HSP47, FKBP65 and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

od Duran, Ivan, Martin, Jorge H., Weis, Mary Ann, Krejci, Pavel, Konik, Peter, Li, Bing, Alanay, Yasemin, Lietman, Caressa, Lee, Brendan, Eyre, David, Cohn, Daniel H., Krakow, Deborah
izdano v J Bone Miner Res (2017)

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

od Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius, Eric, Vermeesch, Joris Robert, Devriendt, Koen
izdano v Eur J Hum Genet (2016)

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

od Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Izdano 2010

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

od Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
izdano v Orphanet J Rare Dis (2015)

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

od Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.
izdano v Mol Syndromol (2020)

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

od Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.
Izdano 2011