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2017
Mark CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Windpassinger, Christian ; Piard, Juliette ; Bonnard, Carine ; Alfadhel, Majid ; Lim, Shuhui ; Bisteau, Xavier ; Blouin, Stéphane ; Ali, Nur'Ain B. ; Ng, Alvin Yu Jin and Lu, Hao , et al. (2017) In American Journal of Human Genetics 101(3). p.391-403
- Contribution to journal › Article
Mark Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
Heinz, Lisa ; Kim, Gwang Jin ; Marrakchi, Slaheddine ; Christiansen, Julie ; Turki, Hamida ; Rauschendorf, Marc Alexander ; Lathrop, Mark ; Hausser, Ingrid ; Zimmer, Andreas D. and Fischer, Judith (2017) In American Journal of Human Genetics 100(6). p.926-939
- Contribution to journal › Article
2016
Mark Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
Nikopoulos, Konstantinos ; Farinelli, Pietro ; Giangreco, Basilio ; Tsika, Chrysanthi ; Royer-Bertrand, Beryl ; Mbefo, Martial K ; Bedoni, Nicola ; Kjellström, Ulrika ^LU ; El Zaoui, Ikram and Di Gioia, Silvio Alessandro , et al. (2016) In American Journal of Human Genetics 99(3). p.770-776
- Contribution to journal › Article
Mark Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
Chami, Nathalie ; Chen, Ming Huei ; Slater, Andrew J. ; Eicher, John D. ; Evangelou, Evangelos ; Tajuddin, Salman M. ; Love-Gregory, Latisha ; Kacprowski, Tim ; Schick, Ursula M. and Nomura, Akihiro , et al. (2016) In American Journal of Human Genetics 99(1). p.8-21
- Contribution to journal › Article
2014
Mark Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
Skibola, Christine F ; Berndt, Sonja I ; Vijai, Joseph ; Conde, Lucia ; Wang, Zhaoming ; Yeager, Meredith ; de Bakker, Paul I W ; Birmann, Brenda M ; Vajdic, Claire M and Foo, Jia-Nee , et al. (2014) In American Journal of Human Genetics 95(4). p.462-471
- Contribution to journal › Article
Mark Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.
Mayes, Maureen D ; Bossini-Castillo, Lara ; Gorlova, Olga ; Martin, José Ezequiel ; Zhou, Xiaodong ; Chen, Wei V ; Assassi, Shervin ; Ying, Jun ; Tan, Filemon K and Arnett, Frank C , et al. (2014) In American Journal of Human Genetics 94(1). p.47-61
- Contribution to journal › Article
Mark Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
Lange, Leslie A ; Hu, Youna ; Zhang, He ; Xue, Chenyi ; Schmidt, Ellen M ; Tang, Zheng-Zheng ; Bizon, Chris ; Lange, Ethan M ; Smith, Joshua D and Turner, Emily H , et al. (2014) In American Journal of Human Genetics 94(2). p.233-245
- Contribution to journal › Article
Mark A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
Lim, Elaine T. ; Liu, Yangfan P. ; Chan, Yingleong ; Tuomi, Tiinamaija ^LU ; Karajamaki, AnnMari ; Madsen, Erik ; Altshuler, David M. ; Raychaudhuri, Soumya ; Groop, Leif ^LU and Fannick, Jason , et al. (2014) In American Journal of Human Genetics 95(5). p.509-520
- Contribution to journal › Article
Mark Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.
Tragante, Vinicius ; Barnes, Michael R ; Ganesh, Santhi K ; Lanktree, Matthew B ; Guo, Wei ; Franceschini, Nora ; Smith, Erin N ; Johnson, Toby ; Holmes, Michael V and Padmanabhan, Sandosh , et al. (2014) In American Journal of Human Genetics 94(3). p.349-360
- Contribution to journal › Article
Mark Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
Peloso, Gina M ; Auer, Paul L ; Bis, Joshua C ; Voorman, Arend ; Morrison, Alanna C ; Stitziel, Nathan O ; Brody, Jennifer A ; Khetarpal, Sumeet A ; Crosby, Jacy R and Fornage, Myriam , et al. (2014) In American Journal of Human Genetics 94(2). p.223-232
- Contribution to journal › Article

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