The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

By Has Cristina   Bruckner-Tuderman Leena   Müller Dietmar  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1951-1955

Oxford University Press

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Gene expression analysis in a canine model of X-linked Alport syndrome

By Greer Kimberly   Higgins Marnie   Cox Melissa   Ryan Timothy   Berridge Brian   Kashtan Clifford   Lees George   Murphy Keith  

Mammalian Genome, Vol. 17, Iss. 9, 2006-09 ,pp. : 976-990

Springer Publishing Company

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X-linked cataract and Nance-Horan syndrome are allelic disorders

By Coccia Margherita   Brooks Simon P.   Webb Tom R.   Christodoulou Katja   Wozniak Izabella O.   Murday Victoria   Balicki Martha   Yee Harris A.   Wangensteen Teresia   Riise Ruth   Saggar Anand K.   Park Soo-Mi   Kanuga Naheed   Francis Peter J.   Maher Eamonn R.   Moore Anthony T.   Russell-Eggitt Isabelle M.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2643-2655

Oxford University Press

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

By Cox Timothy C.  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2553-2562

Oxford University Press

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A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22

By Feldman George J.  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1937-1941

Oxford University Press

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