Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment von Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, Arenas-Sordo, Maria de la Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas

Volltext

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M, Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? von Tüysüz, Beyhan, Ercan-Sencicek, Adife Gülhan, Canpolat, Nur, Koparır, Asuman, Yılmaz, Saliha, Kılıçaslan, Işın, Gülez, Burcu, Bilguvar, Kaya, Günel, Murat

Volltext

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease von Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.

Volltext

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes von Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R, Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Al Rubeaan, Khalid, Alnaqeb, Dhekra, Alshammari, Muneera J, Bayram, Yavuz, Atik, Mehmed M, Aydin, Hatip, Geckinli, B Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M, Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S, Gibbs, Richard A, Lupski, James R

Volltext

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes von Koparir, Asuman, Karatas, Omer Faruk, Yilmaz, Seda Salman, Suer, Ilknur, Ozer, Bugra, Yuceturk, Betul, Ozen, Mustafa

Volltext

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy von Villar‐Quiles, Rocío N., Catervi, Fabio, Cabet, Eva, Juntas‐Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce‐Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband‐Goulet, Isabelle, Ferreiro, Ana

Volltext

Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review von Koparir, Asuman, Gezdirici, Alper, Koparir, Erkan, Ulucan, Hakan, Yilmaz, Mehmet, Erdemir, Aslı, Yuksel, Adnan, Ozen, Mustafa

Volltext

Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis von Koparir, Asuman, Karatas, Omer F, Yuceturk, Betul, Yuksel, Bayram, Bayrak, Ali O, Gerdan, Omer F, Sagiroglu, Mahmut S, Gezdirici, Alper, Kirimtay, Koray, Selcuk, Ece, Karabay, Arzu, Creighton, Chad J, Yuksel, Adnan, Ozen, Mustafa

Volltext

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy von Villar-Quiles, Rocío N, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana

Volltext

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome von Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, 2nd, 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

Volltext

Whole-exome sequencing revealed two novel mutations in Usher syndrome von Koparir, Asuman, Karatas, Omer Faruk, Atayoglu, Ali Timucin, Yuksel, Bayram, Sagiroglu, Mahmut Samil, Seven, Mehmet, Ulucan, Hakan, Yuksel, Adnan, Ozen, Mustafa

Volltext

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome von Lee, Byeonghyeon, Duz, Mehmet Bugrahan, Sagong, Borum, Koparir, Asuman, Lee, Kyu-Yup, Choi, Jae Young, Seven, Mehmet, Yuksel, Adnan, Kim, Un-Kyung, Ozen, Mustafa

Volltext

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease von Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N, Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M, Hunter, Jill V, Atik, Mehmed M, Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O, Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C, Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D, Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M, Adams, David R, Boerwinkle, Eric, Chung, Wendy K, Gibbs, Richard A, Lupski, James R

Volltext

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M, Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen

Additional file 1 of Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M., Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen

Additional file 3 of Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M., Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen

Additional file 7 of Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M., Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen

Additional file 2 of Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M., Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen

Additional file 5 of Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M., Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

Volltext bestellen