Results : 1-25/322
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(1), 2010, pp. 1-2
Authors:
Cullinan, Sara B.
Citation: B. Cullinan, Sara, This Month in The Journal, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 1-2
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 , 89(1), 2011, pp. 1-2
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 , 88(1), 2011, pp. 1-2
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 3-5
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 3-4
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 3-4
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Geneticsl, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 3-5
Authors:
Nelson, David L.
Citation: L. Nelson, David, A Century beyond the Fly Room, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 5-6
Authors:
Lanktree, Matthew B.
Guo, Yiran
Murtaza, Muhammed
Glessner, Joseph T.
Keating, Brendan J.
Citation: B. Lanktree, Matthew et al., Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 6-18
Authors:
Duffy, David L.
Iles, Mark M.
Glass, Dan
Zhu, Gu
Montgomery, Grant W.
Citation: L. Duffy, David et al., IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 6-16
Authors:
Le Goff, Carine
Mahaut, Clémentine
Wang, Lauren W.
Allali, Slimane
Citation: Le Goff, Carine et al., Mutations in the TGF. Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 7-14
Authors:
Visscher, Peter M.
Brown, Matthew A.
Citation: M. Visscher, Peter et A. Brown, Matthew, Five Years of GWAS Discovery, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 7-24
Authors:
Baasanjav, Sevjidmaa
Al-Gazali, Lihadh
Hashiguchi, Taishi
Mizumoto, Shuji
Citation: Baasanjav, Sevjidmaa et al., Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 15-27
Authors:
Hunter-Zinck, Haley
Musharoff, Shaila
Salit, Jacqueline
Al-Ali, Khalid A
Clark, Andrew G.
Citation: Hunter-zinck, Haley et al., Population Genetic Structure of the People of Qatar, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 17-25
Authors:
Ahmed, Zubair M.
Yousaf, Rizwan
Lee, Byung Cheon
Khan, Shaheen N.
Riazuddin, Saima
Citation: M. Ahmed, Zubair et al., Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 19-29
Authors:
Nitschke, Yvonne
Baujat, Geneviève
Botschen, Ulrike
Wittkampf, Tanja
Rutsch, Frank
Citation: Nitschke, Yvonne et al., Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 25-39
Authors:
Gardner, Jessica C.
Webb, Tom R.
Kanuga, Naheed
Robson, Anthony G.
Hardcastle, Alison J.
Citation: C. Gardner, Jessica et al., X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 26-39
Authors:
Rope, Alan F.
Wang, Kai
Evjenth, Rune
Xing, Jinchuan
Citation: F. Rope, Alan et al., Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 28-43
Authors:
Okada, Ippei
Hamanoue, Haruka
Terada, Koji
Tohma, Takaya
Saitsu, Hirotomo
Citation: Okada, Ippei et al., SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 30-41
Authors:
Guernsey, Duane L.
Jiang, Haiyan
Hussin, Julie
Arnold, Marc
Samuels, Mark E.
Citation: L. Guernsey, Duane et al., Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 40-51
Authors:
Wang, Lejing
He, Fei
Bu, Juan
Liu, Xiaqi
Citation: Wang, Lejing et al., ABCB6 Mutations Cause Ocular Coloboma, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 40-48
Authors:
Tan, Min-Han
Mester, Jessica
Peterson, Charissa
Yang, Yiran
Eng, Charis
Citation: Tan, Min-han et al., A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 42-56
Authors:
Saadi, Irfan
Alkuraya, Fowzan S.
Gisselbrecht, Stephen S.
Goessling, Wolfram
Citation: Saadi, Irfan et al., Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 44-55
Authors:
Basel-Vanagaite, Lina
Zevit, Noam
Har Zahav, Adi
Guo, Liang
Citation: Basel-vanagaite, Lina et al., Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 49-60