Loading…
Loading…
Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease
Paludan-Müller, Christian, Ahlberg, Gustav, Ghouse, Jonas, Svendsen, Jesper H., Haunsø, Stig, Olesen, Morten S.
Published in Circulation. Cardiovascular genetics (01.12.2017)
Published in Circulation. Cardiovascular genetics (01.12.2017)
Get full text
Journal Article
Loading…
Loading…
Mutation rate variability as a driving force in adaptive evolution
Get full text
Paper
Journal Article
Loading…
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration
Duvvari, Maheswara R, Saksens, Nicole T M, van de Ven, Johannes P H, de Jong-Hesse, Yvonne, Schick, Tina, Nillesen, Willy M, Fauser, Sascha, Hoefsloot, Lies H, Hoyng, Carel B, de Jong, Eiko K, den Hollander, Anneke I
Published in Molecular vision (15.03.2015)
Get full text
Published in Molecular vision (15.03.2015)
Journal Article
Loading…
PTPN22 1858C>T Polymorphism Distribution in Europe and Association with Rheumatoid Arthritis: Case-Control Study and Meta-Analysis
Totaro, Michele Ciro, Tolusso, Barbara, Napolioni, Valerio, Faustini, Francesca, Canestri, Silvia, Mannocci, Alice, Gremese, Elisa, Bosello, Silvia Laura, Alivernini, Stefano, Ferraccioli, Gianfranco
Published in PloS one (16.09.2011)
Published in PloS one (16.09.2011)
Get full text
Journal Article
Loading…
Analysis of the population genetic structure of Hb D-Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation
Ozturk, Onur, Arikan, Sanem, Atalay, Ayfer, Atalay, Erol O.
Published in American journal of human biology (01.07.2016)
Published in American journal of human biology (01.07.2016)
Get full text
Journal Article
Loading…
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions
Roessler, Erich, Vélez, Jorge I., Zhou, Nan, Muenke, Maximilian
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
Get full text
Journal Article
Loading…
Loading…
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans
Ortega-Cubero, S., Lorenzo-Betancor, O., Lorenzo, E., Alonso, E., Coria, F., Pastor, M.A., Fernández-Santiago, R., Martí, M.J., Ezquerra, M., Valldeoriola, F., Compta, Y., Tolosa, E., Agundez, J.A., Jiménez-Jiménez, F.J., Gironell, A., Clarimon, J., de Castro, P., García-Martín, E., Alonso-Navarro, H., Pastor, P.
Published in Neurobiology of aging (01.10.2013)
Published in Neurobiology of aging (01.10.2013)
Get full text
Journal Article
Loading…
Global and disease-associated genetic variation in the human Fanconi anemia gene family
Rogers, K. J., Fu, W., Akey, J. M., Monnat, R. J.
Published in Human molecular genetics (20.12.2014)
Published in Human molecular genetics (20.12.2014)
Get full text
Journal Article
Loading…
mutation rate
Published in Oxford Dictionary of Biochemistry and Molecular Biology
(01.01.2006)
Get full text
Reference
Loading…
Molecular epidemiology of co‐infection with hepatitis B virus and human immunodeficiency virus (HIV) among adult patients in Harare, Zimbabwe
Baudi, Ian, Iijima, Sayuki, Chin'ombe, Nyasha, Mtapuri‐Zinyowera, Sekesai, Murakami, Shuko, Isogawa, Masanori, Hachiya, Atsuko, Iwatani, Yasumasa, Tanaka, Yasuhito
Published in Journal of medical virology (01.02.2017)
Published in Journal of medical virology (01.02.2017)
Get full text
Journal Article
Loading…
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics
Moreno, Fermin, Indakoetxea, Begoña, Barandiaran, Myriam, Caballero, María Cristina, Gorostidi, Ana, Calafell, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José F., López de Munain, Adolfo, Sánchez-Juan, Pascual, Lee, Suzee E.
Published in PloS one (08.06.2017)
Published in PloS one (08.06.2017)
Get full text
Journal Article
Loading…
Loading…
FADS2 and ELOVL6 mutation frequencies in Japanese Crohn's disease patients
Motoi, Yutaro, Ito, Zensho, Suzuki, Shizuka, Takami, Shinichiro, Matsuo, Kaori, Sato, Mio, Ota, Yuki, Tsuruta, Mizuki, Kojima, Masahiro, Noguchi, Mitsutaka, Uchiyama, Kan, Kubota, Takahiro
Published in Drug Discoveries & Therapeutics (31.12.2019)
Published in Drug Discoveries & Therapeutics (31.12.2019)
Get full text
Journal Article
Loading…
Evolvability of an Optimal Recombination Rate
Lobkovsky, Alexander E., Wolf, Yuri I., Koonin, Eugene V.
Published in Genome biology and evolution (10.12.2015)
Published in Genome biology and evolution (10.12.2015)
Get full text
Journal Article
Loading…
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Kotsopoulos, Joanne, Sopik, Victoria, Rosen, Barry, Fan, Isabel, McLaughlin, John R., Risch, Harvey, Sun, Ping, Narod, Steven A., Akbari, Mohammad R.
Published in Familial cancer (01.01.2017)
Published in Familial cancer (01.01.2017)
Get full text
Journal Article
Loading…
Methodological comparison of the allele refractory mutation system and direct sequencing for detecting EGFR mutations in NSCLC, and the association of EGFR mutations with patient characteristics
Wu, Minmin, Pan, Xiaodong, Xu, Yaya, Wu, Siying, Wu, Xiuling, Chen, Bicheng
Published in Oncology letters (01.07.2018)
Published in Oncology letters (01.07.2018)
Get full text
Journal Article