Benutzer: Gast  Login
Weniger Felder
Einfache Suche
Sortieren nach:
und:
Mehr ...

Kim, Jung-Hyun;Shinde, Deepali N;Reijnders, Margot R F;Hauser, Natalie S;Belmonte, Rebecca L;Wilson, Gregory R;Bosch, Daniëlle G M;Bubulya, Paula A;Shashi, Vandana;Petrovski, Slave;Stone, Joshua K;Park, Eun Young;Veltman, Joris A;Sinnema, Margje;Stumpel, Connie T R M;Draaisma, Jos M;Nicolai, Joost;Yntema, Helger G;Lindstrom, Kristin;de Vries, Bert B A;Jewett, Tamison;Santoro, Stephanie L;Vogt, Julie;Bachman, Kristine K;Seeley, Andrea H;Krokosky, Alyson;Turner, Clesson;Rohena, Luis;Hempel, Maja;Kortüm, Fanny;Lessel, Davor;Neu, Axel;Strom, Tim M;Wieczorek, Dagmar;Bramswig, Nuria;Laccone, Franco A;Behunova, Jana;Rehder, Helga;Gordon, Christopher T;Rio, Marlène;Romana, Serge;Tang, Sha;El-Khechen, Dima;Cho, Megan T;McWalter, Kirsty;Douglas, Ganka;Baskin, Berivan;Begtrup, Amber;Funari, Tara;Schoch, Kelly;Stegmann, Alexander P A;Stevens, Servi J C;Zhang, Dong-Er;Traver, David;Yao, Xu;MacArthur, Daniel G;Brunner, Han G;Mancini, Grazia M;Myers, Richard M;Owen, Laurie B;Lim, Ssang-Taek;Stachura, David L;Vissers, Lisenka E L M;Ahn, Eun-Young Erin
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
2016
99
3
711-719

Mehr ...

Weber, Stefanie;Strasser, Katja;Rath, Sabine;Kittke, Achim;Beicht, Sonja;Alberer, Martin;Lange-Sperandio, Bärbel;Hoyer, Peter F;Benz, Marcus R;Ponsel, Sabine;Weber, Lutz T;Klein, Hanns-Georg;Hoefele, Julia
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Pediatr Nephrol
2016
31
6
941-55

Mehr ...

Lamina, Claudia;Friedel, Salome;Coassin, Stefan;Rueedi, Rico;Yousri, Noha A;Seppälä, Ilkka;Gieger, Christian;Schönherr, Sebastian;Forer, Lukas;Erhart, Gertraud;Kollerits, Barbara;Marques-Vidal, Pedro;Ried, Janina;Waeber, Gerard;Bergmann, Sven;Dähnhardt, Doreen;Stöckl, Andrea;Kiechl, Stefan;Raitakari, Olli T;Kähönen, Mika;Willeit, Johann;Kedenko, Ludmilla;Paulweber, Bernhard;Peters, Annette;Meitinger, Thomas;Strauch, Konstantin;Lehtimäki, Terho;Hunt, Steven C;Vollenweider, Peter;Kronenberg, Florian
A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.
Hum Mol Genet
2016
25
16
3635-3646

Mehr ...

Koch, Johannes;Feichtinger, René G;Freisinger, Peter;Pies, Mechthild;Schrödl, Falk;Iuso, Arcangela;Sperl, Wolfgang;Mayr, Johannes A;Prokisch, Holger;Haack, Tobias B
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
J Med Genet
2016
53
4
270-8

Mehr ...

Kurth, Ingo;Baumgartner, Manuela;Schabhüttl, Maria;Tomni, Cecilia;Windhager, Reinhard;Strom, Tim M;Wieland, Thomas;Gremel, Kurt;Auer-Grumbach, Michaela
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
Am J Med Genet B Neuropsychiatr Genet
2016
171
6
875-8

Mehr ...

Staufner, Christian;Haack, Tobias B;Feyh, Patrik;Gramer, Gwendolyn;Raga, Deepthi Ediga;Terrile, Caterina;Sauer, Sven;Okun, Jürgen G;Fang-Hoffmann, Junmin;Mayatepek, Ertan;Prokisch, Holger;Hoffmann, Georg F;Kölker, Stefan
Genetic cause and prevalence of hydroxyprolinemia.
J Inherit Metab Dis
2016
39
5
625-632

Mehr ...

Franko, Andras;Huypens, Peter;Neschen, Susanne;Irmler, Martin;Rozman, Jan;Rathkolb, Birgit;Neff, Frauke;Prehn, Cornelia;Dubois, Guillaume;Baumann, Martina;Massinger, Rebecca;Gradinger, Daniel;Przemeck, Gerhard K H;Repp, Birgit;Aichler, Michaela;Feuchtinger, Annette;Schommers, Philipp;Stöhr, Oliver;Sanchez-Lasheras, Carmen;Adamski, Jerzy;Peter, Andreas;Prokisch, Holger;Beckers, Johannes;Walch, Axel K;Fuchs, Helmut;Wolf, Eckhard;Schubert, Markus;Wiesner, Rudolf J;Hrab? de Angelis, Martin
Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice.
Diabetes
2016
65
9
2540-52

Mehr ...

Gormley, Padhraig;Anttila, Verneri;Winsvold, Bendik S;Palta, Priit;Esko, Tõnu;Pers, Tune H;Farh, Kai-How;Cuenca-Leon, Ester;Muona, Mikko;Furlotte, Nicholas A;Kurth, Tobias;Ingason, Andrés;McMahon, George;Ligthart, Lannie;Terwindt, Gisela M;Kallela, Mikko;Freilinger, Tobias M;Ran, Caroline;Gordon, Scott G;Stam, Anine H;Steinberg, Stacy;Borck, Guntram;Koiranen, Markku;Quaye, Lydia;Adams, Hieab H H;Lehtimäki, Terho;Sarin, Antti-Pekka;Wedenoja, Juho;Hinds, David A;Buring, Julie E;Schürks, Markus;Ridker, Paul M;Hrafnsdottir, Maria Gudlaug;Stefansson, Hreinn;Ring, Susan M;Hottenga, Jouke-Jan;Penninx, Brenda W J H;Färkkilä, Markus;Artto, Ville;Kaunisto, Mari;Vepsäläinen, Salli;Malik, Rainer;Heath, Andrew C;Madden, Pamela A F;Martin, Nicholas G;Montgomery, Grant W;Kurki, Mitja I;Kals, Mart;Mägi, Reedik;Pärn, Kalle;Hamalainen, Eija;Huang, Hailiang;Byrnes, Andrea E;Franke, Lude;Huang, Jie;Stergiakouli, Evie;Lee, Phil H;Sandor, Cynthia;Webber, Caleb;Cader, Zameel;Müller-Myhsok, Bertram;Schreiber, Stefan;Meitinger, Thomas;Eriksson, Johan G;Salomaa, Veikko;Heikkilä, Kauko;Loehrer, Elizabeth;Uitterlinden, Andre G;Hofman, Albert;van Duijn, Cornelia M;Cherkas, Lynn;Pedersen, Linda M;Stubhaug, Audun;Nielsen, Christopher S;Männikkö, Minna;Mihailov, Evelin;Milani, Lili;Göbel, Hartmut;Esserlind, Ann-Louise;Christensen, Anne Francke;Hansen, Thomas Folkmann;Werge, Thomas;Kaprio, Jaakko;Aromaa, Arpo J;Raitakari, Olli;Ikram, M Arfan;Spector, Tim;Järvelin, Marjo-Riitta;Metspalu, Andres;Kubisch, Christian;Strachan, David P;Ferrari, Michel D;Belin, Andrea C;Dichgans, Martin;Wessman, Maija;van den Maagdenberg, Arn M J M;Zwart, John-Anker;Boomsma, Dorret I;Smith, George Davey;Stefansson, Kari;Eriksson, Nicholas;Daly, Mark J;Neale, Benjamin M;Olesen, Jes;Chasman, Daniel I;Nyholt, Dale R;Palotie, Aarno
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet
2016
48
8
856-66

Mehr ...

Okbay, Aysu;Beauchamp, Jonathan P;Fontana, Mark Alan;Lee, James J;Pers, Tune H;Rietveld, Cornelius A;Turley, Patrick;Chen, Guo-Bo;Emilsson, Valur;Meddens, S Fleur W;Oskarsson, Sven;Pickrell, Joseph K;Thom, Kevin;Timshel, Pascal;de Vlaming, Ronald;Abdellaoui, Abdel;Ahluwalia, Tarunveer S;Bacelis, Jonas;Baumbach, Clemens;Bjornsdottir, Gyda;Brandsma, Johannes H;Pina Concas, Maria;Derringer, Jaime;Furlotte, Nicholas A;Galesloot, Tessel E;Girotto, Giorgia;Gupta, Richa;Hall, Leanne M;Harris, Sarah E;Hofer, Edith;Horikoshi, Momoko;Huffman, Jennifer E;Kaasik, Kadri;Kalafati, Ioanna P;Karlsson, Robert;Kong, Augustine;Lahti, Jari;van der Lee, Sven J;deLeeuw, Christiaan;Lind, Penelope A;Lindgren, Karl-Oskar;Liu, Tian;Mangino, Massimo;Marten, Jonathan;Mihailov, Evelin;Miller, Michael B;van der Most, Peter J;Oldmeadow, Christopher;Payton, Antony;Pervjakova, Natalia;Peyrot, Wouter J;Qian, Yong;Raitakari, Olli;Rueedi, Rico;Salvi, Erika;Schmidt, Börge;Schraut, Katharina E;Shi, Jianxin;Smith, Albert V;Poot, Raymond A;St Pourcain, Beate;Teumer, Alexander;Thorleifsson, Gudmar;Verweij, Niek;Vuckovic, Dragana;Wellmann, Juergen;Westra, Harm-Jan;Yang, Jingyun;Zhao, Wei;Zhu, Zhihong;Alizadeh, Behrooz Z;Amin, Najaf;Bakshi, Andrew;Baumeister, Sebastian E;Biino, Ginevra;Bønnelykke, Klaus;Boyle, Patricia A;Campbell, Harry;Cappuccio, Francesco P;Davies, Gail;De Neve, Jan-Emmanuel;Deloukas, Panos;Demuth, Ilja;Ding, Jun;Eibich, Peter;Eisele, Lewin;Eklund, Niina;Evans, David M;Faul, Jessica D;Feitosa, Mary F;Forstner, Andreas J;Gandin, Ilaria;Gunnarsson, Bjarni;Halldórsson, Bjarni V;Harris, Tamara B;Heath, Andrew C;Hocking, Lynne J;Holliday, Elizabeth G;Homuth, Georg;Horan, Michael A;Hottenga, Jouke-Jan;De Jager, Philip L;Joshi, Peter K;Jugessur, Astanand;Kaakinen, Marika A;Kähönen, Mika;Kanoni, Stavroula;Keltigangas-Järvinen, Liisa;Kiemeney, Lambertus A L M;Kolcic, Ivana;Koskinen, Seppo;Kraja, Aldi T;Kroh, Martin;Kutalik, Zoltan;Latvala, Antti;Launer, Lenore J;Lebreton, Maël P;Levinson, Douglas F;Lichtenstein, Paul;Lichtner, Peter;Liewald, David C M;Loukola, Anu;Madden, Pamela A;Mägi, Reedik;Mäki-Opas, Tomi;Marioni, Riccardo E;Marques-Vidal, Pedro;Meddens, Gerardus A;McMahon, George;Meisinger, Christa;Meitinger, Thomas;Milaneschi, Yusplitri;Milani, Lili;Montgomery, Grant W;Myhre, Ronny;Nelson, Christopher P;Nyholt, Dale R;Ollier, William E R;Palotie, Aarno;Paternoster, Lavinia;Pedersen, Nancy L;Petrovic, Katja E;Porteous, David J;Räikkönen, Katri;Ring, Susan M;Robino, Antonietta;Rostapshova, Olga;Rudan, Igor;Rustichini, Aldo;Salomaa, Veikko;Sanders, Alan R;Sarin, Antti-Pekka;Schmidt, Helena;Scott, Rodney J;Smith, Blair H;Smith, Jennifer A;Staessen, Jan A;Steinhagen-Thiessen, Elisabeth;Strauch, Konstantin;Terracciano, Antonio;Tobin, Martin D;Ulivi, Sheila;Vaccargiu, Simona;Quaye, Lydia;van Rooij, Frank J A;Venturini, Cristina;Vinkhuyzen, Anna A E;Völker, Uwe;Völzke, Henry;Vonk, Judith M;Vozzi, Diego;Waage, Johannes;Ware, Erin B;Willemsen, Gonneke;Attia, John R;Bennett, David A;Berger, Klaus;Bertram, Lars;Bisgaard, Hans;Boomsma, Dorret I;Borecki, Ingrid B;Bültmann, Ute;Chabris, Christopher F;Cucca, Francesco;Cusi, Daniele;Deary, Ian J;Dedoussis, George V;van Duijn, Cornelia M;Eriksson, Johan G;Franke, Barbara;Franke, Lude;Gasparini, Paolo;Gejman, Pablo V;Gieger, Christian;Grabe, Hans-Jörgen;Gratten, Jacob;Groenen, Patrick J F;Gudnason, Vilmundur;van der Harst, Pim;Hayward, Caroline;Hinds, David A;Hoffmann, Wolfgang;Hyppönen, Elina;Iacono, William G;Jacobsson, Bo;Järvelin, Marjo-Riitta;Jöckel, Karl-Heinz;Kaprio, Jaakko;Kardia, Sharon L R;Lehtimäki, Terho;Lehrer, Steven F;Magnusson, Patrik K E;Martin, Nicholas G;McGue, Matt;Metspalu, Andres;Pendleton, Neil;Penninx, Brenda W J H;Perola, Markus;Pirastu, Nicola;Pirastu, Mario;Polasek, Ozren;Posthuma, Danielle;Power, Christine;Province, Michael A;Samani, Nilesh J;Schlessinger, David;Schmidt, Reinhold;Sørensen, Thorkild I A;Spector, Tim D;Stefansson, Kari;Thorsteinsdottir, Unnur;Thurik, A Roy;Timpson, Nicholas J;Tiemeier, Henning;Tung, Joyce Y;Uitterlinden, Andre G;Vitart, Veronique;Vollenweider, Peter;Weir, David R;Wilson, James F;Wright, Alan F;Conley, Dalton C;Krueger, Robert F;Davey Smith, George;Hofman, Albert;Laibson, David I;Medland, Sarah E;Meyer, Michelle N;Yang, Jian;Johannesson, Magnus;Visscher, Peter M;Esko, Tõnu;Koellinger, Philipp D;Cesarini, David;Benjamin, Daniel J
Genome-wide association study identifies 74 loci associated with educational attainment.
Nature
2016
533
7604
539-42

Mehr ...

Colin, Estelle;Daniel, Jens;Ziegler, Alban;Wakim, Jamal;Scrivo, Aurora;Haack, Tobias B;Khiati, Salim;Denommé, Anne-Sophie;Amati-Bonneau, Patrizia;Charif, Majida;Procaccio, Vincent;Reynier, Pascal;Aleck, Kyrieckos A;Botto, Lorenzo D;Herper, Claudia Lena;Kaiser, Charlotte Sophia;Nabbout, Rima;N'Guyen, Sylvie;Mora-Lorca, José Antonio;Assmann, Birgit;Christ, Stine;Meitinger, Thomas;Strom, Tim M;Prokisch, Holger;Miranda-Vizuete, Antonio;Hoffmann, Georg F;Lenaers, Guy;Bomont, Pascale;Liebau, Eva;Bonneau, Dominique
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
2016
99
3
695-703