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Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).
Published in:
European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1567, doi. 10.1007/s00431-012-1732-6
By:
- Kılıç, Esra;
- Utine, Eda;
- Ünal, Şule;
- Haliloğlu, Göknur;
- Oğuz, Kader;
- Çetin, Mualla;
- Boduroğlu, Koray;
- Alanay, Yasemin
Publication type:
Article
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.
Published in:
2010
By:
- Gok, Faysal;
- Crettol, Lauréane Mittaz;
- Alanay, Yasemin;
- Hacıhamdioglu, Bulent;
- Kocaoglu, Murat;
- Bonafe, Luisa;
- Ozen, Seza;
- Crettol, Lauréane Mittaz;
- Hacihamdioglu, Bulent
Publication type:
journal article
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
Published in:
Molecular Syndromology, 2020, v. 11, n. 4, p. 183, doi. 10.1159/000509838
By:
- 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.
Publication type:
Article
Genetic Approach to Osteoporosis.
Published in:
2015
By:
- Alanay, Yasemin
Publication type:
Abstract
Genetic Approach to Osteoporosis.
Published in:
Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 40
By:
- Alanay, Yasemin
Publication type:
Article
Prepubertal Unilateral Gynecomastia: Report of 2 Cases.
Published in:
2014
By:
- Demirbilek, Hüseyin;
- Bacak, Gökhan;
- Baran, Rıza Taner;
- Avcı, Yahya;
- Baran, Ahmet;
- Keleş, Ayşenur;
- Özbek, Mehmet Nuri;
- Alanay, Yasemin;
- Hussain, Khalid
Publication type:
Case Study
Tam ektopia kordisli bir Cantrell pentalojisi vakasi.
Published in:
Cocuk Sagligi ve Hastaliklari Dergisi, 2011, v. 54, n. 2, p. 83
By:
- Kiliç, Esra;
- Alanay, Yasemin;
- Korkmaz, Ayşe;
- Ütine, Eda;
- Karagöz, Tevfik;
- Boduroğlu, Koray
Publication type:
Article
Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi.
Published in:
Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 175
By:
- Korkmaz, Ayşe;
- Akçören, Zuhal;
- Alanay, Yasemin;
- Özyüncü, Özgür;
- Yiğit, Şule;
- Deren, Özgür;
- Talim, Beril;
- Orhan, Diclehan;
- Güçer, Şafak;
- Yurdakök, Murat;
- Önderoğlu, Lütfü;
- Kale, Gülsev;
- Tekinalp, Gülsevin;
- Özkutlu, Süheyla;
- Çiftçi, Arbay Özden;
- Şimşek, Özlem Pelin;
- Ütine, Gülen Eda;
- Durukan, Tekin;
- Tunçbilek, Ergül
Publication type:
Article
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Published in:
2015
By:
- Atik, Tahir;
- Koparir, Asuman;
- Bademci, Guney;
- Foster II, 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;
- Foster, Joseph 2nd
Publication type:
journal article
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-60
By:
- Ahmet Arman;
- Abdullah Bereket;
- Ajda Coker;
- Pelin Özlem Şimşek Kiper;
- Tülay Güran;
- Behzat Özkan;
- Zeynep Atay;
- Teoman Akçay;
- Belma Haliloğlu;
- Koray Boduroğlu;
- Yasemin Alanay;
- Serap Turan
Publication type:
Article
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Published in:
2014
By:
- Arman, Ahmet;
- Bereket, Abdullah;
- Coker, Ajda;
- Kiper, Pelin Özlem Simsek;
- Güran, Tülay;
- Ozkan, Behzat;
- Atay, Zeynep;
- Akçay, Teoman;
- Haliloglu, Belma;
- Boduroglu, Koray;
- Alanay, Yasemin;
- Turan, Serap;
- Kiper, Pelin Özlem Simşek
Publication type:
journal article
Congenital contractural arachnodactyly (Beals syndrome).
Published in:
Orphanet Journal of Rare Diseases, 2006, v. 1, p. 20, doi. 10.1186/1750-1172-1-20
By:
- Tunçbilek, Ergül;
- Alanay, Yasemin
Publication type:
Article
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2270
By:
- Kubar, Ayhan;
- Temel, Sehime Gülsüm;
- Beken, Serdar;
- Onder, Gizem;
- Hatirnaz, Ozden;
- Korkmaz, Ayse;
- Alanay, Yasemin;
- Ozbek, Ugur;
- Sag, Sebnem Ozemri;
- Ergoren, Mahmut Cerkez;
- Kubar, Elif;
- Sonmezalp, Candan Zeynep;
- Doğan, Ozlem
Publication type:
Article
Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects.
Published in:
Pediatrics International, 2014, v. 56, n. 2, p. 167, doi. 10.1111/ped.12222
By:
- Sahiner, Umit M;
- Alanay, Yasemin;
- Alehan, Dursun;
- Tuncbilek, Ergul;
- Alikasifoglu, Mehmet
Publication type:
Article
Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment.
Published in:
Pediatrics International, 2008, v. 50, n. 6, p. 836, doi. 10.1111/j.1442-200X.2008.02752.x
By:
- Andiran, Nesibe;
- Alikasifoglu, Ayfer;
- Alanay, Yasemin;
- Yordam, Nursen
Publication type:
Article
A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome.
Published in:
Clinical, Cosmetic & Investigational Dermatology, 2022, v. 15, p. 621, doi. 10.2147/CCID.S351637
By:
- Durmaz, Emel Öztürk;
- Demircioğlu, Deniz;
- Dikmen, Pınar Yalınay;
- Alanay, Yasemin;
- Alanay, Ahmet;
- Demirkesen, Cüyan;
- Tokat, Fatma;
- Karaarslan, Ercan
Publication type:
Article
DNAJC21‐related thrombocytopenia in a young adult female.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 193, doi. 10.1002/ajmg.c.32043
By:
- Aslan, Deniz;
- Akgun‐Dogan, Ozlem;
- Ay, Beril;
- Çamurdan, Mahmut Orhun;
- Mancılar, Hanifenur;
- Alanay, Yasemin
Publication type:
Article
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1814, doi. 10.1002/ajmg.a.63207
By:
- Karamik, Gokcen;
- Tuysuz, Beyhan;
- Isik, Esra;
- Yilmaz, Aysegul;
- Alanay, Yasemin;
- Sunamak, Evrim Cifci;
- Durmusalioglu, Enise Avci;
- Ozkinay, Ferda;
- Cetin, Gokhan Ozan;
- Ozturk, Nuray;
- Mihci, Ercan;
- Nur, Banu
Publication type:
Article
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3104, doi. 10.1002/ajmg.a.62378
By:
- Akalın, Akçahan;
- Taskiran, Ekim Z.;
- Şimşek‐Kiper, Pelin Özlem;
- Utine, Eda;
- Alanay, Yasemin;
- Özçelik, Uğur;
- Boduroğlu, Koray
Publication type:
Article
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
By:
- Botto, Lorenzo D.;
- Meeths, Marie;
- Campos‐Xavier, Belinda;
- Bergamaschi, Rosalba;
- Mazzanti, Laura;
- Scarano, Emanuela;
- Finocchi, Andrea;
- Cancrini, Caterina;
- Zirn, Birgit;
- Kühnle, Ingrid;
- Kramm, Christof Maria;
- Alanay, Yasemin;
- Jones, Wendy D.;
- Irving, Melita;
- Sabir, Ataf;
- Henter, Jan‐Inge;
- Borgström, Birgit;
- Nordgren, Ann;
- Hammarsjö, Anna;
- Putti, Caterina
Publication type:
Article
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1157, doi. 10.1002/ajmg.a.61154
By:
- 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
Publication type:
Article
AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3231, doi. 10.1002/ajmg.a.37882
By:
- Sengun, Ece;
- Yararbas, Kanay;
- Kasakyan, Serdar;
- Alanay, Yasemin
Publication type:
Article
Is 1p36 deletion associated with anterior body wall defects?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1889, doi. 10.1002/ajmg.a.37666
By:
- Çöllü, Medis;
- Yüksel, Şirin;
- Şirin, Başak Kumbasar;
- Abbasoğlu, Latif;
- Alanay, Yasemin
Publication type:
Article
Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2065, doi. 10.1002/ajmg.a.37122
By:
- Kurt‐Sukur, Eda Didem;
- Simsek‐Kiper, Pelin Ozlem;
- Utine, Gülen Eda;
- Boduroglu, Koray;
- Alanay, Yasemin
Publication type:
Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029
By:
- Dikoglu, Esra;
- Alfaiz, Ali;
- Gorna, Maria;
- Bertola, Deborah;
- Chae, Jong Hee;
- Cho, Tae‐Joon;
- Derbent, Murat;
- Alanay, Yasemin;
- Guran, Tulay;
- Kim, Ok‐Hwa;
- Llerenar Jr, Juan C.;
- Yamamoto, Guillerme;
- Superti‐Furga, Giulio;
- Reymond, Alexandre;
- Xenarios, Ioannis;
- Stevenson, Brian;
- Campos‐Xavier, Belinda;
- Bonafé, Luisa;
- Superti‐Furga, Andrea;
- Unger, Sheila
Publication type:
Article
Report of a patient with Temple-Baraitser syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 848, doi. 10.1002/ajmg.a.36344
By:
- Yesil, Gozde;
- Guler, Serhat;
- Yuksel, Adnan;
- Alanay, Yasemin
Publication type:
Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 291, doi. 10.1002/ajmg.a.36248
By:
- Alanay, Yasemin;
- Ergüner, Bekir;
- Utine, Eda;
- Haçarız, Orçun;
- Kiper, Pelin Ozlem Simsek;
- Taşkıran, Ekim Zihni;
- Perçin, Ferda;
- Uz, Elif;
- Sağıroğlu, Mahmut Şamil;
- Yuksel, Bayram;
- Boduroglu, Koray;
- Akarsu, Nurten Ayse
Publication type:
Article
Three patients resembling Teebi-Shaltout syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2570, doi. 10.1002/ajmg.a.36082
By:
- Aldemir, Ozgur;
- Ozen, Samim;
- Erdem, Sevcan;
- Kiraz, Aslihan;
- Akarsu, Nurten;
- Alanay, Yasemin
Publication type:
Article
IMPAD1 mutations in two Catel-Manzke like patients.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
By:
- Nizon, Mathilde;
- Alanay, Yasemin;
- Tuysuz, Beyhan;
- Kiper, Pelin Ozlem Simsek;
- Geneviève, David;
- Sillence, David;
- Huber, Celine;
- Munnich, Arnold;
- Cormier-Daire, Prof. Valérie
Publication type:
Article
Wiedemann-Rautenstrauch syndrome: Report of a variant case.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1434, doi. 10.1002/ajmg.a.35336
By:
- Kiraz, Aslihan;
- Ozen, Samim;
- Tubas, Filiz;
- Usta, Yusuf;
- Aldemir, Ozgur;
- Alanay, Yasemin
Publication type:
Article
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Published in:
Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b
By:
- Simons, Cas;
- Rash, Lachlan D;
- Crawford, Joanna;
- Ma, Linlin;
- Cristofori-Armstrong, Ben;
- Miller, David;
- Ru, Kelin;
- Baillie, Gregory J;
- Alanay, Yasemin;
- Jacquinet, Adeline;
- Debray, François-Guillaume;
- Verloes, Alain;
- Shen, Joseph;
- Yesil, Gözde;
- Guler, Serhat;
- Yuksel, Adnan;
- Cleary, John G;
- Grimmond, Sean M;
- McGaughran, Julie;
- King, Glenn F
Publication type:
Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Published in:
Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
By:
- Simons, Cas;
- Rash, Lachlan D;
- Crawford, Joanna;
- Ma, Linlin;
- Cristofori-Armstrong, Ben;
- Ru, Kelin;
- Baillie, Gregory J;
- King, Glenn F;
- McGaughran, Julie;
- Gabbett, Michael T;
- Taft, Ryan J;
- Miller, David;
- Alanay, Yasemin;
- Jacquinet, Adeline;
- Debray, François-Guillaume;
- Verloes, Alain;
- Shen, Joseph;
- Yesil, Gözde;
- Guler, Serhat;
- Yuksel, Adnan
Publication type:
Article
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Published in:
Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
By:
- 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
Publication type:
Article
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Published in:
Nature Genetics, 2011, v. 43, n. 2, p. 132, doi. 10.1038/ng.749
By:
- Lausch, Ekkehart;
- Janecke, Andreas;
- Bros, Matthias;
- Trojandt, Stefanie;
- Alanay, Yasemin;
- De Laet, Corinne;
- Hübner, Christian A.;
- Meinecke, Peter;
- Nishimura, Gen;
- Matsuo, Mari;
- Hirano, Yoshiko;
- Tenoutasse, Sylvie;
- Kiss, Andrea;
- Machado Rosa, Rafael Fabiano;
- Unger, Sharon L.;
- Renella, Raffaele;
- Bonafé, Luisa;
- Spranger, Jürgen;
- Unger, Sheila;
- Zabel, Bernhard
Publication type:
Article
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
Published in:
Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 287
By:
- Utine, G. Eda;
- Alanay, Yasemin;
- Aktaş, Dilek;
- Talim, Beril;
- Kale, Gülsev;
- Tunçbilek, Ergül
Publication type:
Article
The Skeletal Dysplasias.
Published in:
Annals of the New York Academy of Sciences, 2007, v. 1117, p. 302, doi. 10.1196/annals.1402.072
By:
- RIMOIN, DAVID L.;
- COHN, DANIEL;
- KRAKOW, DEBORAH;
- WILCOX, WILLIAM;
- LACHMAN, RALPH S.;
- ALANAY, YASEMIN
Publication type:
Article
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.
Published in:
2006
By:
- Alanay, Yasemin;
- Utine, Gulen;
- Lachman, Ralph;
- Krakow, Deborah;
- Tuncbilek, Ergul;
- Utine, Gulen Eda;
- Lachman, Ralph S
Publication type:
journal article
Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders.
Published in:
Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2022, v. 11, n. 1, p. 82, doi. 10.37989/gumussagbil.1078850
By:
- AKGÜN-DOĞAN, Özlem;
- AĞAOĞLU, Nihat Buğra;
- ALANAY, Yasemin
Publication type:
Article
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Published in:
Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1114, doi. 10.1177/10556656211038115
By:
- 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
Publication type:
Article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
By:
- Bramswig, Nuria;
- Lüdecke, Hermann-Josef;
- Alanay, Yasemin;
- Albrecht, Beate;
- Barthelmie, Alexander;
- Boduroglu, Koray;
- Braunholz, Diana;
- Caliebe, Almuth;
- Chrzanowska, Krystyna;
- Czeschik, Johanna;
- Endele, Sabine;
- Graf, Elisabeth;
- Guillén-Navarro, Encarna;
- Kiper, Pelin;
- López-González, Vanesa;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Utine, Gulen;
- Wieland, Thomas;
- Kaiser, Frank
Publication type:
Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Published in:
Human Genetics, 2012, v. 131, n. 11, p. 1761, doi. 10.1007/s00439-012-1197-8
By:
- Fischer, Björn;
- Dimopoulou, Aikaterini;
- Egerer, Johannes;
- Gardeitchik, Thatjana;
- Kidd, Alexa;
- Jost, Dominik;
- Kayserili, Hülya;
- Alanay, Yasemin;
- Tantcheva-Poor, Iliana;
- Mangold, Elisabeth;
- Daumer-Haas, Cornelia;
- Phadke, Shubha;
- Peirano, Reto;
- Heusel, Julia;
- Desphande, Charu;
- Gupta, Neerja;
- Nanda, Arti;
- Felix, Emma;
- Berry-Kravis, Elisabeth;
- Kabra, Madhulika
Publication type:
Article
A mutation screen in patients with Kabuki syndrome.
Published in:
Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y
By:
- Li, Yun;
- Bögershausen, Nina;
- Alanay, Yasemin;
- Simsek Kiper, Pelin;
- 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;
- Boduroglu, Koray;
- Frankenbusch, Katja;
- Borck, Guntram;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
Intrauterine Cataract Diagnosis and Follow-up.
Published in:
Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 4, p. 245, doi. 10.4274/tjo.galenos.2020.05014
By:
- Aksay, Sevinç;
- Bildirici, İbrahim;
- Coşar, Cemile Banu;
- Alanay, Yasemin;
- Ciğercioğulları, Engin
Publication type:
Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
By:
- Alanay, Yasemin;
- Mohnike, Klaus;
- Nilsson, Ola;
- Alves, Inês;
- AlSayed, Moeenaldeen;
- Appelman-Dijkstra, Natasha M.;
- Baujat, Genevieve;
- Ben-Omran, Tawfeg;
- Breyer, Sandra;
- Cormier-Daire, Valerie;
- Gregersen, Pernille Axél;
- Guillén-Navarro, Encarna;
- Högler, Wolfgang;
- Maghnie, Mohamad;
- Mukherjee, Swati;
- Cohen, Shelda;
- Pimenta, Jeanne;
- Selicorni, Angelo;
- Semler, J. Oliver;
- Sigaudy, Sabine
Publication type:
Article
Beals Hecht Sendromu-Artrogripozis Multipleks-Kongenital Araknodaktili: Olgu Sunumu.
Published in:
Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, 2011, v. 57, n. 3, p. 178, doi. 10.4274/tftr.24582
By:
- GÖKKAYA, Nilüfer Kutay Ordu;
- UÇAN, Halil;
- UÇKUN, Aslı Çalışkan;
- ALANAY, Yasemin
Publication type:
Article
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0746-6
By:
- Saygı, Ceren;
- Alanay, Yasemin;
- Sezerman, Uğur;
- Yenenler, Aslı;
- Özören, Nesrin
Publication type:
Article
Mosaic trisomy 8: diagnostic approach with fetal MRI as a complement to ultrasonography.
Published in:
Perinatal Journal / Perinatoloji Dergisi, 2015, v. 23, n. 2, p. 113, doi. 10.2399/prn.15.0232009
By:
- Özcan, Ümit Aksoy;
- Ulus, Sıla;
- Alanay, Yasemin;
- Dinçer, Alp;
- Yayla, Murat
Publication type:
Article
İnfantil Sistemik Hyalinozis: Bir Olgu Sunumu.
Published in:
Archives of the Turkish Dermatology & Venerology / Turkderm, 2009, v. 43, n. 3, p. 112
By:
- Gündüz, Özge;
- Evans, Sibel Ersoy;
- Boduroğlu, Koray;
- Alanay, Yasemin;
- Özkaya, Özay
Publication type:
Article
A severily affected case with Schimke immuno-osseous dysplasia.
Published in:
2012
By:
- Candan, Cengiz;
- Yılmaz, Yüksel;
- Alanay, Yasemin;
- Turhan, Pınar;
- Candan, Fatma;
- Ergüven, Müferet
Publication type:
Journal Article
Şiddetli seyirli Schimke immün-kemik displazili olgu sunumu.
Published in:
Türk Pediatri Arşivi, 2012, v. 47, n. 4, p. 319, doi. 10.4274/tpa.357
By:
- Candan, Cengiz;
- Yılmaz, Yüksel;
- Alanay, Yasemin;
- Turhan, Pınar;
- Candan, Fatma;
- Ergüven, Müferet
Publication type:
Article

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