Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

nork Esmer, Aytul Çorbacıoğlu, Kalelioğlu, İbrahim, Kayserili, Hülya, Yüksel, Atıl, Has, Recep
Argitaratua 2013

Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report

nork Engin, Gulgun, Eraslan, Serpil, Kayserili, Hülya, Kapran, Yersu, Akman, Haluk, Akyuz, Ali, Aykan, Nuri Faruk
Argitaratua izan da World J Radiol (2017)

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

nork Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher
Argitaratua izan da Mol Cytogenet (2018)

Opsismodysplasia resulting from an insertion mutation in the SH2 domain which destabilizes INPPL1

nork Li, Bing, Krakow, Deborah, Nickerson, Deborah A., Bamshad, Michael J., Chang, Yong, Lachman, Ralph S., Yilmaz, Alev, Kayserili, Hülya, Cohn, Daniel H.
Argitaratua 2014

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

nork Uysal, Fahrettin, Turkgenc, Burcu, Toksoy, Guven, Bostan, Ozlem M., Evke, Elif, Uyguner, Oya, Yakicier, Cengiz, Kayserili, Hulya, Cil, Ergun, Temel, Sehime G.
Argitaratua izan da BMC Med Genet (2017)

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

nork Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Argitaratua 2013

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

nork Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Argitaratua 2002

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

nork Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C., New, Maria I., Wollnik, Bernd, Saka, Nurçin
Argitaratua 2009

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

nork Cain, Corey J., Gaborit, Nathalie, Lwin, Wint, Barruet, Emilie, Ho, Samantha, Bonnard, Carine, Hamamy, Hanan, Shboul, Mohammad, Reversade, Bruno, Kayserili, Hülya, Bruneau, Benoit G., Hsiao, Edward C.
Argitaratua izan da Bone Rep (2016)

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

nork Kalay, Ersan, Sezgin, Orhan, Chellappa, Vasant, Mutlu, Mehmet, Morsy, Heba, Kayserili, Hulya, Kreiger, Elmar, Cansu, Aysegul, Toraman, Bayram, Abdalla, Ebtesam Mohammed, Aslan, Yakup, Pillai, Shiv, Akarsu, Nurten A.
Argitaratua 2012

Candidate Locus Analysis for PHACE Syndrome

nork Mitchell, Sheri, Siegel, Dawn H., Shieh, Joseph T., Stevenson, David A., Grimmer, J. Fredrik, Lewis, Tracey, Metry, Denise, Frieden, Ilona, Blei, Francine, Kayserili, Hulya, Drolet, Beth A., Bayrak-Toydemir, Pinar
Argitaratua 2012

Teratogenicity of Antiepileptic Drugs

nork Güveli, Betül Tekin, Rosti, Rasim Özgür, Güzeltaş, Alper, Tuna, Elif Bahar, Ataklı, Dilek, Sencer, Serra, Yekeler, Ensar, Kayserili, Hülya, Dirican, Ahmet, Bebek, Nerses, Baykan, Betül, Gökyiğit, Ayşen, Gürses, Candan
Argitaratua izan da Clin Psychopharmacol Neurosci (2017)

A large duplication involving the IHH locus mimics acrocallosal syndrome

nork Yuksel-Apak, Memnune, Bögershausen, Nina, Pawlik, Barbara, Li, Yun, Apak, Selcuk, Uyguner, Oya, Milz, Esther, Nürnberg, Gudrun, Karaman, Birsen, Gülgören, Ayan, Grzeschik, Karl-Heinz, Nürnberg, Peter, Kayserili, Hülya, Wollnik, Bernd
Argitaratua 2012

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

nork Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.
Argitaratua 2004

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

nork Bonnard, Carine, Navaratnam, Naveenan, Ghosh, Kakaly, Chan, Puck Wee, Tan, Thong Teck, Pomp, Oz, Ng, Alvin Yu Jin, Tohari, Sumanty, Changede, Rishita, Carling, David, Venkatesh, Byrappa, Altunoglu, Umut, Kayserili, Hülya, Reversade, Bruno
Argitaratua izan da J Exp Med (2020)

Mutations in CDK5RAP2 cause Seckel syndrome

nork Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Argitaratua izan da Mol Genet Genomic Med (2015)

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

nork 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
Argitaratua izan da Orphanet J Rare Dis (2015)

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

nork 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.
Argitaratua izan da Mol Syndromol (2020)

Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping

nork Harville, Heather M., Held, Susanne, Diaz-Font, Anna, Davis, Erica E., Diplas, Bill H., Lewis, Richard A., Borochowitz, Zvi, Zhou, Weibin, Chaki, Moumita, MacDonald, Jim, Kayserili, Hulya, Beales, Philip L., Katsanis, Nicholas, Otto, Edgar, Hildebrandt, Friedhelm
Argitaratua 2009

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

nork Dowling, Oonagh, Difeo, Analisa, Ramirez, Maria C., Tukel, Turgut, Narla, Goutham, Bonafe, Luisa, Kayserili, Hulya, Yuksel-Apak, Memnune, Paller, Amy S., Norton, Karen, Teebi, Ahmad S., Grum-Tokars, Valerie, Martin, Gail S., Davis, George E., Glucksman, Marc J., Martignetti, John A.
Argitaratua 2003