„variant“

Suchergebnisse

1.000+ Treffer

• Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
  Büyükgöl, Furkan ; Gürdamar, Berk ; Aluçlu, Mehmet Ufuk ; Beckmann, Yeşim ; Bilguvar, Kaya ; Boz, Cavit ; Bülbül, Alper ; Bünül, Sena Destan ; Çetin, Özge ; Demir, Caner Feyzi ; Demir, Serkan ; Duman, Taşkın ; Efendi, Hüsnü ; Ekmekçi, Özgül ; Ertetik, Utku ; Ethemoğlu, Özlem ; Everest, Elif ; Gümüş, Haluk ; Gündüz, Tuncay ; Karabudak, Rana ; Karaman, Bedriye ; Kürtüncü, Murat ; Mutluer, Muzaffer ; Reda, Meziyet Dilara ; Saip, Sabahattin ; Seferoğlu, Meral ; Sever, Elif ; Sezerma
• A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler
  Pepe, Francesco ; Russo, Gianluca ; Barraco, Nadia ; Bono, Marco ; Listì, Angela ; Righi, Luisella ; Biase, Dario de ; Maloberti, Thais ; Scimone, Claudia ; Palumbo, Lucia ; Rocco, Danilo ; Roscigno, Giuseppina ; Gallo, Enzo ; Buglioni, Simonetta ; Coco, Michelina ; Muscarella, Lucia Anna ; Troncone, Giancarlo ; Malapelle, Umberto
• High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands
  Yoshida, Reiko ; Kaneyasu, Tomoko ; Ueki, Arisa ; Yamauchi, Hideko ; Ohsumi, Shozo ; Ohno, Shinji ; Aoki, Daisuke ; Baba, Shinichi ; Kawano, Junko ; Matsumoto, Naomichi ; Nagasaki, Masao ; Ueno, Takayuki ; Inari, Hitoshi ; Kobayashi, Yusuke ; Takei, Junko ; Gotoh, Osamu ; Nishi, Mitsuyo ; Okamura, Miki ; Kaneko, Keika ; Okawa, Megumi ; Suzuki, Misato ; Amino, Sayuri ; Inuzuka, Mayuko ; Noda, Tetsuo ; Mori, Seiichi ; Nakamura, Seigo
• Hairy cell leukemia variant and WHO classification correspondence Re: 5th edition WHO classification haematolymphoid tumors: lymphoid neoplasms
  Grever, Michael ; Andritsos, Leslie ; Anghelina, Mirela ; Arons, Evgeny ; Banerji, Versha ; Barrientos, Jacqueline ; Bhat, Seema A. ; Blachly, James ; Broccoli, Alessandro ; Call, Timothy ; Dearden, Claire ; Dietrich, Sascha ; Else, Monica ; Epperla, Narendranath ; Fagarasanu, Andrei ; Falini, Brunangelo ; Forconi, Francesco ; Gozzetti, Alessandro ; Hampel, Paul ; Hermel, David J. ; Iyengar, Sunil ; Johnston, James B. ; Juliusson, Gunnar ; Kreitman, Robert ; Lauria, Francesco ; Lozanski, Gerard ; Oakes, Chr
• Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
  Kast, Karin ; John, Esther M. ; Hopper, John L. ; Andrieu, Nadine ; Noguès, Catherine ; Mouret-Fourme, Emmanuelle ; Lasset, Christine ; Fricker, Jean-Pierre ; Berthet, Pascaline ; Mari, Véronique ; Salle, Lucie ; Schmidt, Marjanka K. ; Ausems, Margreet G. E. M. ; Garcia, Encarnacion B. Gomez ; Beek, Irma van de ; Wevers, Marijke R. ; Evans, D. Gareth ; Tischkowitz, Marc ; Lalloo, Fiona ; Cook, Jackie ; Izatt, Louise ; Tripathi, Vishakha ; Snape, Katie ; Musgrave, Hannah ; Sharif, Saba ; Murray, Jennie ; C
• Bladder cancer course, four genetic high-risk variants, and histopathological findings
  Kadhum, Thura ; Selinski, Silvia ; Blaszkewicz, Meinolf ; Reinders, Jörg ; Roth, Emanuel ; Volkert, Frank ; Ovsiannikov, Daniel ; Moormann, Oliver ; Gerullis, Holger ; Barski, Dimitri ; Otto, Thomas ; Höhne, Svetlana ; Hengstler, Jan G. ; Golka, Klaus
• Chromosomal and proteome analysis of a new T24‐based cell line model for aggressive bladder cancer
  Makridakis, Manousos ; Gagos, Sarantis ; Petrolekas, Andreas ; Roubelakis, Maria G. ; Bitsika, Vasiliki ; Stravodimos, Konstantinos ; Pavlakis, Kitty ; Anagnou, Nicholas P. ; Coleman, Jonathan ; Vlahou, Antonia
• Familial acute aortic dissection associated with a novel ACTA2 germline variant
  Strecker, Thomas ; Wiesmueller, Felix ; Rudnik-Schöneborn, Sabine ; Hoyer, Juliane ; Reis, André ; Weyand, Michael ; Agaimy, Abbas
• Variants of escherichia coli subtilase cytotoxin subunits show differences in complex formation in vitro
  Krause, Maike ; Sessler, Katharina ; Kaziales, Anna ; Grahl, Richard ; Noettger, Sabrina ; Barth, Holger ; Schmidt, Herbert 2019 Universität Ulm
• Rare variants in LRRK1 and Parkinson's disease
  Schulte, Eva C. ; Ellwanger, Daniel C. ; Dihanich, Sybille ; Manzoni, Claudia ; Stangl, Katrin ; Schormair, Barbara ; Graf, Elisabeth ; Eck, Sebastian ; Mollenhauer, Brit ; Haubenberger, Dietrich ; Pirker, Walter ; Zimprich, Alexander ; Brücke, Thomas ; Lichtner, Peter ; Peters, Annette ; Gieger, Christian ; Trenkwalder, Claudia ; Mewes, Hans-Werner ; Meitinger, Thomas ; Lewis, Patrick A. ; Klünemann, Hans H. ; Winkelmann, Juliane
• On q-variant of Dai–Yuan conjugate gradient algorithm for unconstrained optimization problems
  Mishra, Shashi Kant ; Samei, Mohammad Esmael ; Chakraborty, Suvra Kanti ; Ram, Bhagwat
• Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition
  Siegert, Sandy ; Schmidt, Wolfgang M. ; Pletschko, Thomas ; Bittner, Reginald E. ; Gobara, Sonja ; Freilinger, Michael
• Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
  Shah, Khadim ; Ali, Raja Hussain ; Ansar, Muhammad ; Lee, Kwanghyuk ; Chishti, Muhammad Salman ; Abbe, Izoduwa ; Li, Biao ; Smith, Joshua D. ; Nickerson, Deborah A. ; Shendure, Jay ; Coucke, Paul J. ; Steyaert, Wouter ; Bamshad, Michael J. ; Santos-Cortez, Regie Lyn P. ; Leal, Suzanne M. ; Ahmad, Wasim
• Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA
  Minucci, Angelo ; Bonis, Maria De ; Paolis, Elisa De ; Gentile, Leonarda ; Santonocito, Concetta ; Concolino, Paola ; Mignone, Flavio ; Capoluongo, Ettore
• SNCA 3′UTR genetic variants in patients with Parkinson’s disease and REM sleep behavior disorder
  Toffoli, M. ; Dreussi, E. ; Cecchin, E. ; Valente, M. ; Sanvilli, N. ; Montico, M. ; Gagno, S. ; Garziera, M. ; Polano, M. ; Savarese, M. ; Calandra-Buonaura, G. ; Placidi, F. ; Terzaghi, M. ; Toffoli, G. ; Gigli, G. L.
• Structural insights into ligand binding of PGRP1 splice variants in Chinese giant salamander (Andrias davidianus) from molecular dynamics and free energy calculations
  Qi, Zhitao ; Meng, Fancui ; Zhang, Qihuan ; Wang, Zisheng ; Qiao, Guo ; Xu, Wei ; Shao, Rong ; Chen, Chenglung
• Effects of common GRM5 genetic variants on cognition, hippocampal volume and mGluR5 protein levels in schizophrenia
  Matosin, Natalie ; Newell, Kelly Anne ; Quidé, Yann ; Andrews, Jessica Lee ; Teroganova, Nina ; Green, Melissa Jayne ; Fernandez, Francesca
• Impact of matrix metalloproteinase 9 rs3918242 genetic variant on lipid-lowering efficacy of simvastatin therapy in Chinese patients with coronary heart disease
  Xu, Yuanyuan ; Wang, Yan ; Zhi, Jixin ; Qi, Lichun ; Zhang, Tong ; Li, Xueqi
• Surgical treatment of Monteggia variant fracture dislocations of the elbow in adults: surgical technique and clinical outcomes
  Matar, Hosam E. ; Akimau, Pavel I. ; Stanley, David ; Ali, Amjid A.
• A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension
  Higasa, Koichiro ; Ogawa, Aiko ; Terao, Chikashi ; Shimizu, Masakazu ; Kosugi, Shinji ; Yamada, Ryo ; Date, Hiroshi ; Matsubara, Hiromi ; Matsuda, Fumihiko