Results : 101-113/113
Authors:
Vermeer, Sascha
Hoischen, Alexander
Meijer, Rowdy P.P.
Gilissen, Christian
Knoers, Nine
Citation: Vermeer, Sascha et al., Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 813-819
Authors:
Feinstein, Miora
Markus, Barak
Noyman, Iris
Shalev, Hannah
Birk, Ohad S
Citation: Feinstein, Miora et al., Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 820-828
Authors:
Stark, Amy L.
Zhang, Wei
Zhou, Tong
O'Donnell, Peter H.
Dolan, M. Eileen
Citation: L. Stark, Amy et al., Population Differences in the Rate of Proliferation of International HapMap Cell Lines, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 829-833
Authors:
Gundesli, Hulya
Talim, Beril
Korkusuz, Petek
Balci-Hayta, Burcu
Dincer, Pervin
Citation: Gundesli, Hulya et al., Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 834-841
Authors:
Sambuughin, Nyamkhishig
Yau, Kyle S.
Olivé, Montse
Duff, Rachael M
Goldfarb, Lev G.
Citation: Sambuughin, Nyamkhishig et al., Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 842-847
Authors:
Emery, Leslie S.
Felsenstein, Joseph
Akey, Joshua M.
Citation: S. Emery, Leslie et al., Estimators of the Human Effective Sex Ratio Detect Sex Biases on Different Timescales, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 848-856
Authors:
Ramocki, Melissa B.
Bartnik, Magdalena
Szafranski, Przemyslaw
Ko.odziejska, Katarzyna E.
Stankiewicz, Pawe.
Citation: B. Ramocki, Melissa et al., Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 857-865
Authors:
Agarwal, Anil K.
Xing, Chao
DeMartino, George N.
Mizrachi, Dario
Garg, Abhimanyu
Citation: K. Agarwal, Anil et al., PSMB8 Encoding the .5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 866-872
Authors:
Bolze, Alexandre
Byun, Minji
McDonald, David
Morgan, Neil V.
Casanova, Jean-Laurent
Citation: Bolze, Alexandre et al., Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 873-881
Authors:
Mochida, Ganeshwaran H.
Ganesh, Vijay S.
Felie, Jillian M.
Gleason, Danielle
Walsh, Christopher A.
Citation: H. Mochida, Ganeshwaran et al., A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 882-889
Authors:
Carrasquillo, Minerva M.
Nicholson, Alexandra M.
Finch, NiCole
Gibbs, J. Raphael
Rademakers, Rosa
Citation: M. Carrasquillo, Minerva et al., Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 890-897
Authors:
Pearlman, Alexander
Loke, Johnny
Le Caignec, Cedric
White, Stefan
Ostrer, Harry
Citation: Pearlman, Alexander et al., Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 898-904
Authors:
McLarren, Keith W.
Severson, Tesa M.
du Souich, Christèle
Stockton, David W.
Boerkoel, Cornelius F.
Citation: W. Mclarren, Keith et al., Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 905-914