1,203 results for monogenic+disorder

1,203 results for monogenic+disorder

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    Author / Creator:Steel, Edward ; Leitch, Harry ; Cobben, Jan ; Wakeling, Emma
    Publisher:London: BMJ Publishing Group LTD
    Journal title:Archives of disease in childhood, 2020-11, Vol.105 (Suppl 2), p.A31-A31
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    Author / Creator:Scriven, Paul N.
    Publisher:New York: Springer US
    Journal title:Journal of assisted reproduction and genetics, 2022-02, Vol.39 (2), p.331-340
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    Author / Creator:Smith, Eric E
    Publisher:England: Elsevier Ltd
    Journal title:Lancet neurology, 2017-02, Vol.16 (2), p.98-99
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    Author / Creator:Oheim, Ralf ; Tsourdi, Elena ; Seefried, Lothar ; Beller, Gisela ; Schubach, Max ; Vettorazzi, Eik ; Stürznickel, Julian ; Rolvien, Tim ; Ehmke, Nadja ; Delsmann, Alena ; Genest, Franca ; Krüger, Ulrike ; Zemojtel, Tomasz ; Barvencik, Florian ; Schinke, Thorsten ; Jakob, Franz ; Hofbauer, Lorenz C ; Mundlos, Stefan ; Kornak, Uwe
    Publisher:United States: Oxford University Press
    Journal title:The journal of clinical endocrinology and metabolism, 2022-06, Vol.107 (7), p.e3048-e3057
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    Author / Creator:Son, Rachel ; England, Eleina ; Cole, Joanne B. ; Weisburd, Ben ; Watts, Nick ; Caulkins, Lizz ; Dornbos, Peter ; Koesterer, Ryan ; Zappala, Zachary ; Zhang, Haichen ; Maloney, Kristin A. ; Dahl, Andy ; Aguilar-Salinas, Carlos A. ; Atzmon, Gil ; Barajas-Olmos, Francisco ; Barzilai, Nir ; Blangero, John ; Boerwinkle, Eric ; Bonnycastle, Lori L. ; Bottinger, Erwin ; Bowden, Donald W. ; Chami, Nathalie ; Chan, Edmund ; Chan, Juliana ; Cheng, Ching-Yu ; Cho, Yoon Shin ; DeFronzo, Ralph A. ; Duggirala, Ravindranath ; Dupuis, Josée ; Garay-Sevilla, Ma Eugenia ; Gieger, Christian ; Glaser, Benjamin ; González-Villalpando, Clicerio ; Gonzalez, Ma Elena ; Grarup, Niels ; Groop, Leif ; Gross, Myron ; Han, Sohee ; Hansen, Torben ; Heard-Costa, Nancy L. ; Henderson, Brian E. ; Hernandez, Juan Manuel Malacara ; Islas-Andrade, Sergio ; Jørgensen, Marit E. ; Kang, Hyun Min ; Kim, Bong-Jo ; Kim, Young Jin ; Koistinen, Heikki A. ; Kooner, Jaspal Singh ; Kuusisto, Johanna ; Kwak, Soo-Heon ; Laakso, Markku ; Lee, Juyoung ; Lehman, Donna M. ; Linneberg, Allan ; Loos, Ruth J. F. ; Ma, Ronald C. W. ; Martínez-Hernández, Angélica ; Meigs, James B. ; Mendoza-Caamal, Elvia ; Mohlke, Karen L. ; Morris, Andrew D. ; Morrison, Alanna C. ; Ng, Maggie C. Y. ; Nilsson, Peter M. ; Orozco, Lorena ; Palmer, Colin N. A. ; Park, Kyong Soo ; Pedersen, Oluf ; Reiner, Alexander P. ; Revilla-Monsalve, Cristina ; Rich, Stephen S. ; Rotter, Jerome I. ; Sim, Xueling ; Sladek, Rob ; Small, Kerrin S. ; So, Wing Yee ; Spector, Timothy D. ; Strauch, Konstantin ; Strom, Tim M. ; Tai, E. Shyong ; Tam, Claudia H. T. ; Teo, Yik Ying ; Thameem, Farook ; Tomlinson, Brian ; Tracy, Russell P. ; Tuomi, Tiinamaija ; Tuomilehto, Jaakko ; Tusié-Luna, Teresa ; van Dam, Rob M. ; Wilson, James G. ; Witte, Daniel R. ; Wong, Tien-Yin ; McCarthy, Mark I. ; Boehnke, Michael ; O’Donnell-Luria, Anne ; Baxter, Samantha ; Florez, Jose C. ; MacArthur, Daniel G. ; Udler, Miriam S.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2021-06, Vol.12 (1), p.3505-15, Article 3505
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    Author / Creator:Boucher, Sophie ; Tai, Fabienne Wong Jun ; Delmaghani, Sedigheh ; Lelli, Andrea ; Singh-Estivalet, Amrit ; Dupont, Typhaine ; Niasme-Grare, Magali ; Michel, Vincent ; Wolff, Nicolas ; Bahloul, Amel ; Bouyacoub, Yosra ; Bouccara, Didier ; Fraysse, Bernard ; Deguine, Olivier ; Collet, Lionel ; Thai-Van, Hung ; Ionescu, Eugen ; Kemeny, Jean-Louis ; Giraudet, Fabrice ; Lavieille, Jean-Pierre ; Devèze, Arnaud ; Roudevitch-Pujol, Anne-Laure ; Vincent, Christophe ; Renard, Christian ; Franco-Vidal, Valérie ; Thibult-Apt, Claire ; Darrouzet, Vincent ; Bizaguett, Eric ; Coez, Arnaud ; Aschard, Hugues ; Michalski, Nicolas ; Lefevre, Gaëlle M. ; Aubois, Anne ; Avan, Paul ; Bonnet, Crystel ; Petit, Christine
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-12, Vol.117 (49), p.31278-31289
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    Author / Creator:Jain, Shantanu ; Bakolitsa, Constantina ; Brenner, Steven E. ; Radivojac, Predrag ; Moult, John ; Repo, Susanna ; Hoskins, Roger A. ; Andreoletti, Gaia ; Barsky, Daniel ; Chellapan, Ajithavalli ; Chu, Hoyin ; Dabbiru, Navya ; Kollipara, Naveen K. ; Ly, Melissa ; Neumann, Andrew J. ; Pal, Lipika R. ; Odell, Eric ; Pandey, Gaurav ; Peters-Petrulewicz, Robin C. ; Srinivasan, Rajgopal ; Yee, Stephen F. ; Yeleswarapu, Sri Jyothsna ; Zuhl, Maya ; Adebali, Ogun ; Patra, Ayoti ; Beer, Michael A. ; Hosur, Raghavendra ; Peng, Jian ; Bernard, Brady M. ; Berry, Michael ; Dong, Shengcheng ; Boyle, Alan P. ; Adhikari, Aashish ; Chen, Jingqi ; Hu, Zhiqiang ; Wang, Robert ; Wang, Yaqiong ; Miller, Maximilian ; Wang, Yanran ; Bromberg, Yana ; Turina, Paola ; Capriotti, Emidio ; Han, James J. ; Ozturk, Kivilcim ; Carter, Hannah ; Babbi, Giulia ; Bovo, Samuele ; Di Lena, Pietro ; Martelli, Pier Luigi ; Savojardo, Castrense ; Casadio, Rita ; Cline, Melissa S. ; De Baets, Greet ; Bonache, Sandra ; Díez, Orland ; Gutiérrez-Enríquez, Sara ; Fernández, Alejandro ; Montalban, Gemma ; Ootes, Lars ; Özkan, Selen ; Padilla, Natàlia ; Riera, Casandra ; De la Cruz, Xavier ; Diekhans, Mark ; Huwe, Peter J. ; Wei, Qiong ; Xu, Qifang ; Dunbrack, Roland L. ; Gotea, Valer ; Elnitski, Laura ; Margolin, Gennady ; Fariselli, Piero ; Kulakovskiy, Ivan V. ; Makeev, Vsevolod J. ; Penzar, Dmitry D. ; Vorontsov, Ilya E. ; Favorov, Alexander V. ; Forman, Julia R. ; Hasenahuer, Marcia ; Fornasari, Maria S. ; Parisi, Gustavo ; Avsec, Ziga ; Çelik, Muhammed H. ; Nguyen, Thi Yen Duong ; Gagneur, Julien ; Shi, Fang-Yuan ; Edwards, Matthew D. ; Guo, Yuchun ; Tian, Kevin ; Zeng, Haoyang ; Gifford, David K. ; Göke, Jonathan ; Zaucha, Jan ; Gough, Julian ; Ritchie, Graham R. S. ; Frankish, Adam ; Mudge, Jonathan M. ; Harrow, Jennifer ; Young, Erin L. ; Yu, Yao
    Publisher:England: BioMed Central Ltd
    Journal title:Genome Biology, 2024-02, Vol.25 (1), p.53-53, Article 53
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    Author / Creator:Wang, Jie ; Xing, Jun ; Chen, Linjun ; Diao, Zhenyu ; He, Linlin ; Wang, Shanshan ; Lin, Fei ; Zhang, Ningyuan
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Archives of gynecology and obstetrics, 2024-12, Vol.310 (6), p.3195-3208
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    Author / Creator:Széll, Noémi ; Fehér, Tamás ; Maróti, Zoltán ; Kalmár, Tibor ; Latinovics, Dóra ; Nagy, István ; Orosz, Zsuzsanna Z. ; Janáky, Márta ; Facskó, Andrea ; Sohajda, Zoltán
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.45-45, Article 45
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    Author / Creator:Wu, Wenman ; Zhou, Xuanyou ; Jiang, Zhengwen ; Zhang, Dazhi ; Yu, Feng ; Zhang, Lanlan ; Wang, Xuefeng ; Chen, Songchang ; Xu, Chenming
    Publisher:London: BioMed Central
    Journal title:Human genomics, 2022-07, Vol.16 (1), p.1-28, Article 28
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    Author / Creator:Murugesu, Sughashini ; Jones, Benjamin P. ; Serhal, Paul ; Ben-Nagi, Jara
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of medical case reports, 2024-04, Vol.18 (1), p.227-227, Article 227
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    Author / Creator:Grüning, Nana-Maria ; Ralser, Markus
    Publisher:Switzerland: MDPI AG
    Journal title:Biomolecules (Basel, Switzerland), 2024-02, Vol.14 (2), p.206
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    Author / Creator:Koniali, Lola ; Lederer, Carsten W. ; Kleanthous, Marina
    Publisher:Basel: MDPI AG
    Journal title:Cells (Basel, Switzerland), 2021-06, Vol.10 (6), p.1492
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    Author / Creator:Balamanikandan, P. ; Bharathi, S. Jeya
    Publisher:AIMS Press
    Journal title:Mathematical biosciences and engineering : MBE, 2022-01, Vol.19 (10), p.10060-10077
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    Author / Creator:Origa, Raffaella ; Issa, Layal
    Publisher:Switzerland: MDPI AG
    Journal title:Journal of clinical medicine, 2024-11, Vol.13 (22), p.6966
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    Author / Creator:Yang, Xiao‐Yan ; Meng, Yan ; Wang, Yang‐Yang ; Lu, Yan‐Ping ; Wang, Qiu‐Hong ; You, Yan‐Qin ; Xie, Xiao‐Xiao ; Bai, Ling ; Fang, Nan ; Zou, Li‐Ping
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1952-n/a
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    Author / Creator:Goldman, Kara N. ; Nazem, Taraneh ; Berkeley, Alan ; Palter, Steven ; Grifo, Jamie A.
    Publisher:New York: Springer US
    Journal title:Journal of genetic counseling, 2016-12, Vol.25 (6), p.1327-1337
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    Author / Creator:Gall, Bryan J. ; Smart, Trevor B. ; Munch, Robin ; Kolluri, Supraja ; Tadepally, Hamsa ; Lim, Karen Phaik Har ; Demko, Zachary P. ; Benn, Peter ; Souter, Vivienne ; Sanapareddy, Nina ; Keen‐Kim, Dianne
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2022-12, Vol.10 (12), p.e2085-n/a
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