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Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 875, doi. 10.1038/ejhg.2013.256
By:
- Campanella, Nathália C;
- Berardinelli, Gustavo N;
- Scapulatempo-Neto, Cristovam;
- Viana, Danilo;
- Palmero, Edenir I;
- Pereira, Rui;
- Reis, Rui M
Publication type:
Article
Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 938, doi. 10.1038/ejhg.2013.264
By:
- Voruganti, V Saroja;
- Franceschini, Nora;
- Haack, Karin;
- Laston, Sandra;
- MacCluer, Jean W;
- Umans, Jason G;
- Comuzzie, Anthony G;
- North, Kari E;
- Cole, Shelley A
Publication type:
Article
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 856, doi. 10.1038/ejhg.2013.254
By:
- Srebniak, Malgorzata I;
- Diderich, Karin EM;
- Govaerts, Lutgarde CP;
- Joosten, Marieke;
- Riedijk, Sam;
- Galjaard, Robert Jan H;
- Van Opstal, Diane
Publication type:
Article
Distribution of ancestral chromosomal segments in admixed genomes and its implications for inferring population history and admixture mapping.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 930, doi. 10.1038/ejhg.2013.265
By:
- Jin, Wenfei;
- Li, Ran;
- Zhou, Ying;
- Xu, Shuhua
Publication type:
Article
Clinical utility gene card for: Hyperlipoproteinemia, TYPE II.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 1, doi. 10.1038/ejhg.2013.271
By:
- Kassner, Ursula;
- Wühle-Demuth, Marion;
- Missala, Isabelle;
- Humphries, Steve E;
- Steinhagen-Thiessen, Elisabeth;
- Demuth, Ilja
Publication type:
Article
Is a requirement of personalised assent realistic? A case from the GABRIEL project.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 855, doi. 10.1038/ejhg.2013.259
By:
- Waligora, Marcin
Publication type:
Article
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 907, doi. 10.1038/ejhg.2013.268
By:
- Prokudin, Ivan;
- Simons, Cas;
- Grigg, John R;
- Storen, Rebecca;
- Kumar, Vikrant;
- Phua, Zai Y;
- Smith, James;
- Flaherty, Maree;
- Davila, Sonia;
- Jamieson, Robyn V
Publication type:
Article
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263
By:
- Jones, Gabriela E;
- Ostergaard, Pia;
- Moore, Anthony T;
- Connell, Fiona C;
- Williams, Denise;
- Quarrell, Oliver;
- Brady, Angela F;
- Spier, Isabel;
- Hazan, Filiz;
- Moldovan, Oana;
- Wieczorek, Dagmar;
- Mikat, Barbara;
- Petit, Florence;
- Coubes, Christine;
- Saul, Robert A;
- Brice, Glen;
- Gordon, Kristiana;
- Jeffery, Steve;
- Mortimer, Peter S;
- Vasudevan, Pradeep C
Publication type:
Article
Clinical utility gene card for: Xeroderma pigmentosum.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 1, doi. 10.1038/ejhg.2013.233
By:
- Schubert, Steffen;
- Lehmann, Janin;
- Kalfon, Limor;
- Slor, Hanoch;
- Falik-Zaccai, Tzipora C;
- Emmert, Steffen
Publication type:
Article
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
By:
- Spiegel, Ronen;
- Saada, Ann;
- Halvardson, Jonatan;
- Soiferman, Devorah;
- Shaag, Avraham;
- Edvardson, Simon;
- Horovitz, Yoseph;
- Khayat, Morad;
- Shalev, Stavit A;
- Feuk, Lars;
- Elpeleg, Orly
Publication type:
Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
By:
- Gardeitchik, Thatjana;
- Mohamed, Miski;
- Fischer, Björn;
- Lammens, Martin;
- Lefeber, Dirk;
- Lace, Baiba;
- Parker, Michael;
- Kim, Ki-Joong;
- Lim, Bing C;
- Häberle, Johannes;
- Garavelli, Livia;
- Jagadeesh, Sujatha;
- Kariminejad, Ariana;
- Guerra, Deanna;
- Leão, Michel;
- Keski-Filppula, Riikka;
- Brunner, Han;
- Nijtmans, Leo;
- van den Heuvel, Bert;
- Wevers, Ron
Publication type:
Article
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 923, doi. 10.1038/ejhg.2012.309
By:
- Aretz, Stefan;
- Tricarico, Rossella;
- Papi, Laura;
- Spier, Isabel;
- Pin, Elisa;
- Horpaopan, Sukanya;
- Cordisco, Emanuela Lucci;
- Pedroni, Monica;
- Stienen, Dietlinde;
- Gentile, Annamaria;
- Panza, Anna;
- Piepoli, Ada;
- de Leon, Maurizio Ponz;
- Friedl, Waltraut;
- Viel, Alessandra;
- Genuardi, Maurizio
Publication type:
Article
Reply to Waligora.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 855, doi. 10.1038/ejhg.2013.260
By:
- Giesbertz, Noor A A;
- Bredenoord, Annelien L;
- van Delden, Johannes J M
Publication type:
Article
Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 859, doi. 10.1038/ejhg.2013.267
By:
- Ioannou, Liane;
- Massie, John;
- Lewis, Sharon;
- Collins, Veronica;
- McClaren, Belinda;
- Delatycki, Martin B
Publication type:
Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
By:
- Helbig, Ingo;
- Swinkels, Marielle E M;
- Aten, Emmelien;
- Caliebe, Almuth;
- van 't Slot, Ruben;
- Boor, Rainer;
- von Spiczak, Sarah;
- Muhle, Hiltrud;
- Jähn, Johanna A;
- van Binsbergen, Ellen;
- van Nieuwenhuizen, Onno;
- Jansen, Floor E;
- Braun, Kees P J;
- de Haan, Gerrit-Jan;
- Tommerup, Niels;
- Stephani, Ulrich;
- Hjalgrim, Helle;
- Poot, Martin;
- Lindhout, Dick;
- Brilstra, Eva H
Publication type:
Article
What hinders minority ethnic access to cancer genetics services and what may help?
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 866, doi. 10.1038/ejhg.2013.257
By:
- Allford, Anna;
- Qureshi, Nadeem;
- Barwell, Julian;
- Lewis, Celine;
- Kai, Joe
Publication type:
Article
Genealogical analysis as a new approach for the investigation of drug intolerance heritability.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 916, doi. 10.1038/ejhg.2013.270
By:
- Tremblay, Marc;
- Bouhali, Tarek;
- Gaudet, Daniel;
- Brisson, Diane
Publication type:
Article
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 949, doi. 10.1038/ejhg.2013.274
By:
- Beck, Tim;
- Hastings, Robert K;
- Gollapudi, Sirisha;
- Free, Robert C;
- Brookes, Anthony J
Publication type:
Article
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 944, doi. 10.1038/ejhg.2013.252
By:
- Leutermann, Ruth;
- Sheikhzadeh, Sara;
- Brockstädt, Lars;
- Rybczynski, Meike;
- van Rahden, Vanessa;
- Kutsche, Kerstin;
- von Kodolitsch, Yskert;
- Rosenberger, Georg
Publication type:
Article

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