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PreviewIssue DateTitleAuthor(s)
2016The genetic history of Peruvian Quechua-Lamistas and Chankas: uniparental DNA Patterns among autochthonous Amazonian and Andean populationsSandoval, J.; Lacerda, D.; Acosta, O.; Jota, M.; Robles-Ruiz, P.; Salazar-Granara, A.; Vieira, P.; Paz-y-Miño, C.; Fujita, R.; Santos, F.; Jin, L.; Li, H.; Li, S.; Swamikrishnan, P.; Javed, A.; Parida, L.; Royyuru, A.; Mitchell, R.; Zalloua, P.; Adhikarla, S.; et al.
1996Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardationGedeon, A.; Glass, I.; Connor, J.; Mulley, J.
1997Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2Horwitz, M.; Benson, K.; Li, F.; Wolff, J.; Leppert, M.; Hobson, L.; Mangelsdorf, M.; Yu, S.; Hewett, D.; Richards, R.; Raskind, W.
1997The genome organisation of the Fanconi Anemia Group A (FAA) GeneIanzano, L.; d'Apolito, M.; Centra, M.; Savino, M.; Levran, O.; Auerbach, A.; Cleton-Jansen, A.; Doggett, N.; Pronk, J.; Tipping, A.; Gibson, R.; Mathew, C.; Whitmore, S.; Apostolou, S.; Callen, D.; Zelante, L.; Savoia, A.
2019Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphologyHan, X.; Qassim, A.; An, J.; Marshall, H.; Zhou, T.; Ong, J.-.S.; Hassall, M.M.; Hysi, P.G.; Foster, P.J.; Khaw, P.T.; Mackey, D.A.; Gharahkhani, P.; Khawaja, A.P.; Hewitt, A.W.; Craig, J.E.; MacGregor, S.
2019A genome-wide association study of mitochondrial DNA copy number in two population-based cohortsGuyatt, A.; Brennan, R.; Burrows, K.; Guthrie, P.; Ascione, R.; Ring, S.; Gaunt, T.; Pyle, A.; Cordell, H.; Lawlor, D.; Chinnery, P.; Hudson, G.; Rodriguez, S.
2018Genome-wide gene-environment interaction in depression: a systematic evaluation of candidate genes: the childhood trauma working-group of PGC-MDDVan der Auwera, S.; Peyrot, W.; Milaneschi, Y.; Hertel, J.; Baune, B.; Breen, G.; Byrne, E.; Dunn, E.; Fisher, H.; Homuth, G.; Levinson, D.; Lewis, C.; Mills, N.; Mullins, N.; Nauck, M.; Pistis, G.; Preisig, M.; Rietschel, M.; Ripke, S.; Sullivan, P.; et al.
2018A genome-wide scan for signatures of selection in Azeri and Khuzestani buffalo breedsMokhber, M.; Moradi-Shahrbabak, M.; Sadeghi, M.; Moradi-Shahrbabak, H.; Stella, A.; Nicolzzi, E.; Rahmaninia, J.; Williams, J.
2011A Genome-Wide survey of imprinted genes in rice seeds reveals imprinting primarily occurs in the endospermLuo, M.; Taylor, J.; Spriggs, A.; Zhang, H.; Wu, X.; Russell, S.; Singh, M.; Koltunow, A.
2018The genomic history of southeastern EuropeMathieson, I.; Alpaslan-Roodenberg, S.; Posth, C.; Szécsényi-Nagy, A.; Rohland, N.; Mallick, S.; Olalde, I.; Broomandkhoshbacht, N.; Candilio, F.; Cheronet, O.; Fernandes, D.; Ferry, M.; Gamarra, B.; Fortes, G.; Haak, W.; Harney, E.; Jones, E.; Keating, D.; Krause-Kyora, B.; Kucukkalipci, I.; et al.
2018A genomic Neolithic time transect of hunter-farmer admixture in central PolandFernandes, D.; Strapagiel, D.; Borówka, P.; Marciniak, B.; Żądzińska, E.; Sirak, K.; Siska, V.; Grygiel, R.; Carlsson, J.; Manica, A.; Lorkiewicz, W.; Pinhasi, R.
1997Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3Mitchison, H.; Munroe, P.; O'Rawe, A.; Taschner, P.; De Vos, N.; Kremmidiotis, G.; Lensink, I.; Munk, A.; D'Arigo, K.; Anderson, J.; Lerner, T.; Moyzis, R.; Callen, D.; Breuning, M.; Doggett, N.; Gardiner, R.; Mole, S.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.; Sutherland, G.; Callen, D.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
2016Getting a head in hard soils: convergent skull evolution and divergent allometric patterns explain shape variation in a highly diverse genus of pocket gophers (Thomomys)Marcy, A.; Hadly, E.; Sherratt, E.; Garland, K.; Weisbecker, V.
2018A global cline in a colour polymorphism suggests a limited contribution of gene flow towards the recovery of a heavily exploited marine mammalHoffman, J.; Bauer, E.; Paijmans, A.; Humble, E.; Beckmann, L.; Kubetschek, C.; Christaller, F.; Kröcker, N.; Fuchs, B.; Moreras, A.; Shihlomule, Y.; Bester, M.; Cleary, A.; De Bruyn, P.; Forcada, J.; Goebel, M.; Goldsworthy, S.; Guinet, C.; Hoelzel, A.; Lydersen, C.; et al.
2017Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyEwans, L.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.; Cowley, M.; Buckley, M.; Scheffer, I.; Jackson, M.; Roscioli, T.; Shoubridge, C.
2010Great expectations: using massively parallel sequencing to solve inherited disordersCorbett, M.; Gecz, J.
2018Guidelines for whole genome bisulphite sequencing of intact and FFPET DNA on the Illumina HiSeq X TenNair, S.; Luu, P.-.L.; Qu, W.; Maddugoda, M.; Huschtscha, L.; Reddel, R.; Chenevix-Trench, G.; Toso, M.; Kench, J.; Horvath, L.; Hayes, V.; Stricker, P.; Hughes, T.; White, D.; Rasko, J.; Wong, J.-.L.; Clark, S.