Point Mutations in Human GLI3 Cause Greig Syndrome

By Wild Anja   Kalff-Suske Martha   Vortkamp Andrea   Bornholdt Dorothea   Kônig Rainer   Grzeschik Karl-Heinz  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1979-1984

Oxford University Press

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DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

By Belohradsky B.H.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2917-2931

Oxford University Press

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Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency

By Dupuis Lucie   Leon-Del-Rio Alfonso   Leclerc Daniel   Campeau Eric   Sweetman Lawrence   Saudubray Jean-Marie   Herman Gail   Gibson K. Michael   Gravel Roy A.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1011-1016

Oxford University Press

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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

By Jacobson Samuel G.  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1893-1902

Oxford University Press

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Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

By Kmoch Stanislav   Hartmannová Hana   Stibùrková Blanka   Krijt Jakub   Zikánová Marie   ebesta Ivan  

Human Molecular Genetics, Vol. 9, Iss. 10, 2000-06 ,pp. : 1501-1513

Oxford University Press

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