Αποτελέσματα αναζήτησης - Okur, Volkan

The impact of hereditary cancer gene panels on clinical care and lessons learned από Okur, Volkan, Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A Study on the Rheological Properties of Recycled Rubber-Modified Asphalt Mixtures από Karacasu, Murat, Okur, Volkan, Er, Arzu

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Pulmonary Hypertension in Patients with 9q34.3 microdeletion-associated Kleefstra Syndrome από Okur, Volkan, Nees, Shannon, Chung, Wendy K., Krishnan, Usha

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature από Okur, Volkan, Ganapathi, Mythily, Wilson, Ashley, Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay από Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function από Al-Deri, Noraldin, Okur, Volkan, Ahimaz, Priyanka, Milev, Miroslav, Valivullah, Zaheer M., Hagen, Jacob, Shen, Yufeng, Chung, Wendy K., Sacher, Michael, Ganapathi, Mythily

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants από Craddock, Kirsten E., Okur, Volkan, Wilson, Ashley, Gerkes, Erica H., Ramsey, Keri, Heeley, Jennifer M., Juusola, Jane, Vitobello, Antonio, Dupeyron, Marie-Noelle Bonnet, Faivre, Laurence, Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation από Kim, Christine Y., Wirth, Thomas, Hubsch, Cécile, Németh, Andrea H., Okur, Volkan, Anheim, Mathieu, Drouot, Nathalie, Tranchant, Christine, Rudolf, Gabrielle, Chelly, Jamel, Tatton-Brown, Katrina, Blauwendraat, Cornelis, Vonsattel, Jean Paul G., Cortes, Etty, Alcalay, Roy N., Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder από Ganapathi, Mythily, Padgett, Leah R., Yamada, Kentaro, Devinsky, Orrin, Willaert, Rebecca, Person, Richard, Au, Ping-Yee Billie, Tagoe, Julia, McDonald, Marie, Karlowicz, Danielle, Wolf, Barry, Lee, Joanna, Shen, Yufeng, Okur, Volkan, Deng, Liyong, LeDuc, Charles A., Wang, Jiayao, Hanner, Ashleigh, Mirmira, Raghavendra G., Park, Myung Hee, Mastracci, Teresa L., Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment από Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities από Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies από Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου