Kết quả tìm kiếm - Altunoglu, Umut

A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot Bằng Börklü, Esra, Altunoğlu, Umut, Eraslan, Serpil, Kayserili, Hülya

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A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation Bằng Uzunhan, Tuğce Aksu, Altunoğlu, Umut, Yıldız, Edibe Pembegul, Aydınlı, Nur

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Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features Bằng Bulut, Ozgul, Ince, Zeynep, Altunoglu, Umut, Yildirim, Sukran, Coban, Asuman

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Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases Bằng Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD Bằng Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza

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A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutat... Bằng Kardelen, Aslı Derya, Toksoy, Güven, Baş, Firdevs, Yavaş Abalı, Zehra, Gençay, Genco, Poyrazoğlu, Şükran, Bundak, Rüveyde, Altunoğlu, Umut, Avcı, Şahin, Najaflı, Adam, Uyguner, Oya, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza

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

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Mutations in CDK5RAP2 cause Seckel syndrome Bằng 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

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

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Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey Bằng 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.

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Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021) Bằng Sahni, Geetika, Chang, Shu‐Yung, Meng, Jeremy Teo Choon, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

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A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects Bằng Sahni, Geetika, Chang, Shu‐Yung, Meng, Jeremy Teo Choon, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

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A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects Bằng Sahni, Geetika, Chang, Shu‐Yung, Teo, Jeremy Choon Meng, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

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IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts Bằng Adami, Eleonora, Viswanathan, Sivakumar, Widjaja, Anissa A, Ng, Benjamin, Chothani, Sonia, Zhihao, Nevin, Tan, Jessie, Lio, Pei Min, George, Benjamin L, Altunoglu, Umut, Ghosh, Kakaly, Paleja, Bhairav S, Schafer, Sebastian, Reversade, Bruno, Albani, Salvatore, Ling, Andrea Low Hsiu, O'Reilly, Steven, Cook, Stuart A

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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) Bằng Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam

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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome Bằng Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno, Arts, Heleen H.

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes Bằng Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey Bằng Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay Bằng Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.

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Mutations in WNT1 Cause Different Forms of Bone Fragility Bằng Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd

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