Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

By Stoller Jason Z.  

Human Molecular Genetics, Vol. 14, Iss. 7, 2005-04 ,pp. : 885-892

Oxford University Press

Access to resources Recommend Favorite

Isolation of a Novel Gene from the DiGeorge Syndrome Critical Region with Homology to Drosophila gdl and to Human LAMC1 Genes

By Demczuk Suzanne   Thomas Gilles   Aurias Alain  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 633-638

Oxford University Press

Access to resources Recommend Favorite

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

By Slavotinek Anne M.   Mehrotra Pavni   Nazarenko Irina   Tang Paul Ling-Fung   Lao Richard   Cameron Don   Li Ben   Chu Catherine   Chou Chris   Marqueling Ann L.   Yahyavi Mani   Cordoro Kelly   Frieden Ilona   Glaser Tom   Prescott Trine   Morren Marie-Anne   Devriendt Koen   Kwok Pui-yan   Petkovich Martin   Desnick Robert J.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 696-703

Oxford University Press

Access to resources Recommend Favorite

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

By Liao Jun  

Human Molecular Genetics, Vol. 13, Iss. 15, 2004-08 ,pp. : 1577-1585

Oxford University Press

Access to resources Recommend Favorite

Functional Analysis of Genes Implicated in Down Syndrome: 1. Cognitive Abilities in Mice Transpolygenic for Down Syndrome Chromosomal Region-1 (DCR-1)

By Chabert Caroline  

Behavior Genetics, Vol. 34, Iss. 6, 2004-11 ,pp. : 559-569

Springer Publishing Company

Access to resources Recommend Favorite