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Results: 151-175/870
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 163-164
Authors:
Fuchs-Telem, Dana
Sarig, Ofer
van Steensel, Maurice A.M.
Citation: Fuchs-telem, Dana et al., Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 163-170
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 165-166
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 165-167
Authors:
Srinivasan, Anupama
Bianchi, Diana W.
Huang, Hui
Citation: Srinivasan, Anupama et al., Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 167-176
Authors:
Foo, Jia Nee
Smedby, Karin E.
Akers, Nicholas K.
Citation: Foo, Jia Nee et al., Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 167-172
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Authors:
Zimprich, Alexander
Benet-Pagès, Anna
Struhal, Walter
Graf, Elisabeth
Citation: Zimprich, Alexander et al., A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 168-175
Authors:
Vander Weele, Tyler
Citation: Vander Weele, Tyler, Genetic Self Knowledge and the Future of Epidemiologic Confounding Tyler Vander Weele Pages 168-172 View PDF Articles, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 168-172
Authors:
Webb, Bryn D.
Shaaban, Sherin
Gaspar, Harald
Citation: D. Webb, Bryn et al., HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1./. Mice, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 171-179
Authors:
Cullinan, Sara B.
Citation: B. Cullinan, Sara, This Month in The Journal, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 171-172
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Authors:
Whibley, Annabel C
Plagnol, Vincent
Tarpey, Patrick S.
Abidi, Fatima
Raymond, F. Lucy
Citation: C. Whibley, Annabel et al., Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 173-188
Authors:
Aoki, Yoko
Niihori, Tetsuya
Banjo, Toshihiro
Citation: Aoki, Yoko et al., Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 173-180
Authors:
Browning, Brian L.
Browning, Sharon R.
Citation: L. Browning, Brian et R. Browning, Sharon, A Fast, Powerful Method for Detecting Identity by Descent, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 173-182
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 173-174
Authors:
Goriely, Anne
Wilkie, Andrew O.M.
Citation: Goriely, Anne et Wilkie, Andrew O.m, Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 175-200
Authors:
Arshad Rafiq, Muhammad
Kuss, Andreas W.
Puettmann, Lucia
Noor, Abdul
Citation: Arshad Rafiq, Muhammad et al., Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 176-182
Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes
Authors:
Ayub, Qasim
Moutsianas, Loukas
Chen, Yuan
Citation: Ayub, Qasim et al., Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes, American journal of human genetics (Online) AJHG , 94(2), 2014, pp. 176-185
Authors:
Tang, Liang
Wang, Hua-Fang
Lu, Xuan
Citation: Tang, Liang et al., Common Genetic Risk Factors for Venous Thrombosis in the Chinese Population, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 177-187
Authors:
Kim, Jong Wook
Hong, Kyung-Won
Go, Min Jin
Citation: Kim, Jong Wook et al., A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 180-184
Authors:
Bögershausen, Nina
Shahrzad, Nassim
Chong, Jessica X.
Citation: Bögershausen, Nina et al., Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 181-190
Authors:
Jordan, Daniel M.
Kiezun, Adam
Baxter, Samantha M.
Agarwala, Vineeta
Sunyaev, Shamil R.
Citation: M. Jordan, Daniel et al., Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 183-192
Authors:
Sergouniotis, Panagiotis I.
Davidson, Alice E.
Mackay, Donna S.
Li, Zheng
Citation: I. Sergouniotis, Panagiotis et al., Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 183-190
Authors:
Ke, Xiayi
Citation: Ke, Xiayi, Presence of Multiple Independent Effects in Risk Loci of Common Complex Human Diseases, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 185-192
Authors:
Kulzer, Jennifer R.
Stitzel, Michael L.
Morken, Mario A.
Citation: R. Kulzer, Jennifer et al., A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell, American journal of human genetics (Online) AJHG , 94(2), 2014, pp. 186-197
Authors:
Amyere, Mustapha
Aerts, Virginie
Brouillard, Pascal
Citation: Amyere, Mustapha et al., Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 188-196