Loss-of-function mutations in the LIM-homeodomain gene, LMX1B , in nail–patella syndrome

By Vollrath D.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1091-1098

Oxford University Press

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Mutations in the human SIX3 gene in holoprosencephaly are loss of function

By Domen Sabina   Roessler Erich   El-Jaick Kenia B.   Snir Mirit   Brown Jamie L.   Vlez Jorge I.   Bale Sherri   Lacbawan Felicitas   Muenke Maximilian   Feldman Benjamin  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3919-3928

Oxford University Press

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

By Kalff-Suske Martha   Wild Anja   Topp Juliane   Wessling Martina   Jacobsen Eva-Maria   Bornholdt Dorothea   Engel Hartmut   Heuer Heike   Aalfs Cora M.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1769-1777

Oxford University Press

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loss-of-function mutations in developmental eye disorders including SHORT syndrome

By Reis Linda   Tyler Rebecca   Schilter Kala   Abdul-Rahman Omar   Innis Jeffrey   Kozel Beth   Schneider Adele   Bardakjian Tanya   Lose Edward   Martin Donna   Broeckel Ulrich   Semina Elena  

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Springer Publishing Company

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Mutational analysis of the Jagged 1 gene in Alagille syndrome families

By Yuan Z-R.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1363-1369

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