Search Results - Mang, Yuan
- Showing 1 - 12 results of 12
-
1
-
2
-
3
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families by Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.
Published 2021Text -
4
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract by Hansen, Lars, Comyn, Sophie, Mang, Yuan, Lind-Thomsen, Allan, Myhre, Layne, Jean, Francesca, Eiberg, Hans, Tommerup, Niels, Rosenberg, Thomas, Pilgrim, David
Published 2014Text -
5
Sequence and expression analysis of gaps in human chromosome 20 by 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
Published 2012Text -
6
Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene by 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.
Published 2020Text -
7
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability by 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
Published 2013Text -
8
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia by 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
Published 2014Text -
9
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis by 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
Published 2020Text -
10
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes by 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
Published 2018Text -
11
The phenotypic spectrum of SCN8A encephalopathy by 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.
Published 2015Text -
12
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies by 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
Published 2017Text