Sökresultat - Mang, Yuan

Intragenomic Matching Reveals a Huge Potential for miRNA-Mediated Regulation in Plants av Lindow, Morten, Jacobsen, Anders, Nygaard, Sanne, Mang, Yuan, Krogh, Anders

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Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals av Hellmann, Ines, Mang, Yuan, Gu, Zhiping, Li, Peter, de la Vega, Francisco M., Clark, Andrew G., Nielsen, Rasmus

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Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families av Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.

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The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract av Hansen, Lars, Comyn, Sophie, Mang, Yuan, Lind-Thomsen, Allan, Myhre, Layne, Jean, Francesca, Eiberg, Hans, Tommerup, Niels, Rosenberg, Thomas, Pilgrim, David

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Sequence and expression analysis of gaps in human chromosome 20 av Minocherhomji, Sheroy, Seemann, Stefan, Mang, Yuan, El-schich, Zahra, Bak, Mads, Hansen, Claus, Papadopoulos, Nickolas, Josefsen, Knud, Nielsen, Henrik, Gorodkin, Jan, Tommerup, Niels, Silahtaroglu, Asli

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Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene av Bech, Sara, Løkkegaard, Annemette, Nielsen, Troels T., Nørremølle, Anne, Grønborg, Sabine, Hasholt, Lis, Steffensen, Gudrun K., Graehn, Gabor, Olesen, Jess H., Tommerup, Niels, Mang, Yuan, Bak, Mads, Nielsen, Jørgen E., Eiberg, Hans, Hjermind, Lena E.

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Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability av Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami

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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia av Minocherhomji, Sheroy, Hansen, Claus, Kim, Hyung-Goo, Mang, Yuan, Bak, Mads, Guldberg, Per, Papadopoulos, Nickolas, Eiberg, Hans, Doh, Gerald Dayebga, Møllgård, Kjeld, Hertz, Jens Michael, Nielsen, Jørgen E., Ropers, Hans-Hilger, Tümer, Zeynep, Tommerup, Niels, Kalscheuer, Vera M., Silahtaroglu, Asli

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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis av Farooq, Muhammad, Lindbæk, Louise, Krogh, Nicolai, Doganli, Canan, Keller, Cecilie, Mönnich, Maren, Gonçalves, André Brás, Sakthivel, Srinivasan, Mang, Yuan, Fatima, Ambrin, Andersen, Vivi Søgaard, Hussain, Muhammad S., Eiberg, Hans, Hansen, Lars, Kjaer, Klaus Wilbrandt, Gopalakrishnan, Jay, Pedersen, Lotte Bang, Møllgård, Kjeld, Nielsen, Henrik, Baig, Shahid. M., Tommerup, Niels, Christensen, Søren Tvorup, Larsen, Lars Allan

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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes av Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

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The phenotypic spectrum of SCN8A encephalopathy av Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies av Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

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