The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach

por Sahin, Bedia, Burton, Erik, Kuybu, Okkes, Sahin, Yavuz, Brinkley, John
Publicado 2022

Structural and Genomic Variation in Preterm Birth

por Uzun, Alper, Sahin, Yavuz, Schuster, Jessica S., Zheng, Xiaojing, Ryckman, Kelli, Feingold, Eleanor, Padbury, James
Publicado 2016

The relationship between estradiol-progesterone alterations after ovulation trigger and treatment success in intrauterine insemination cycles

por Kutlu, Tayfun, Özkaya, Enis, Şanverdi, İlhan, Devranoğlu, Belgin, İpekçi, Cansu, Konukçu, Birsen, Şahin, Yavuz, Karateke, Ateş
Publicado 2016

Non-invasive prediction of implantation window in controlled hyperstimulation cycles: Can the time from the menstrual day at embryo transfer to expected menstrual cycle give a clue...

por Şanverdi, İlhan, Özkaya, Enis, Kutlu, Tayfun, Şenol, Taylan, Akalın, Munip, Sayar Akalın, Eda, Şahin, Yavuz, Karateke, Ateş
Publicado 2016

Clinical analyses of successful and previously failed intracytoplasmic sperm injection cycle parameters in patients with poor ovarian reserve

por Kutlu, Tayfun, Özkaya, Enis, Kumru, Pınar, Ayvacı, Habibe, Devranoğlu, Belgin, Sanverdi, İlhan, Şahin, Yavuz, Sağlam, Beyhan, Karateke, Ateş
Publicado 2017

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, “1033G>T”, at the SERPING1 gene

por Ozkars, Mehmet Yasar, Keskın, Ozlem, Bayram, Nazan, Onay, Huseyin, Keskın, Mehmet, Bayram, Hasan, Sahın, Yavuz, Küçükosmanoğlu, Ercan, Kırık, Serkan
Publicado 2019

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

por Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, Houlden, Henry
Publicado 2022

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

por Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Publicado 2022

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

por Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
Publicado 2020