Results:
1-20
Results : 20
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:
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:
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:
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:
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:
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:
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
Authors:
Huppke, Peter
Brendel, Cornelia
Kalscheuer, Vera
Korenke, Georg Christoph
Citation: Huppke, Peter et al., Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 61-68
Authors:
Mitchell, Karen
O'Sullivan, James
Missero, Caterina
Blair, Ed
Citation: Mitchell, Karen et al., Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 69-75
Authors:
Kalay, Ersan
Sezgin, Orhan
Chellappa, Vasant
Mutlu, Mehmet
Citation: Kalay, Ersan et al., Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 76-85
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly
Authors:
Yoneda, Yuriko
Haginoya, Kazuhiro
Arai, Hiroshi
Yamaoka, Shigeo
Citation: Yoneda, Yuriko et al., De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 86-90
Authors:
Jeanne, Marion
Labelle-Dumais, Cassandre
Jorgensen, Jeff
Kauffman, W. Berkeley
Citation: Jeanne, Marion et al., COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 91-101
Authors:
Estrada-Cuzcano, Alejandro
Neveling, Kornelia
Kohl, Susanne
Banin, Eyal
Citation: Estrada-cuzcano, Alejandro et al., Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 102-109
Authors:
Gibson, William T.
Hood, Rebecca L.
Zhan, Shing Hei
Bulman, Dennis E.
Citation: T. Gibson, William et al., Mutations in EZH2 Cause Weaver Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 110-118
Authors:
Lederer, Damien
Grisart, Bernard
Digilio, Maria Cristina
Benoit, Valérie
Citation: Lederer, Damien et al., Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 119-124
Authors:
Zhang, Zhenlin
Xia, Weibo
He, Jinwei
Zhang, Zeng
Citation: Zhang, Zhenlin et al., Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 125-132
Authors:
Vaags, Andrea K.
Lionel, Anath C.
Sato, Daisuke
Goodenberger, McKinsey
Citation: K. Vaags, Andrea et al., Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 133-141
Authors:
Weraarpachai, Woranontee
Sasarman, Florin
Nishimura, Tamiko
Antonicka, Hana
Citation: Weraarpachai, Woranontee et al., Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 142-151
Authors:
Heron, Sarah E.
Grinton, Bronwyn E.
Kivity, Sara
Afawi,Zaid
Citation: E. Heron, Sarah et al., PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 152-160
Authors:
Caputo, Viviana
Cianetti, Luciano
Niceta, Marcello
Carta, Claudio
Citation: Caputo, Viviana et al., A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 161-169
Results:
1-20