A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

By Schwarzer Wibke   Witte Florian   Rajab Anna   Mundlos Stefan   Stricker Sigmar  

Human Molecular Genetics, Vol. 18, Iss. 21, 2009-11 ,pp. : 4013-4021

Oxford University Press

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Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

By Jiang Si-Tse   Chiou Yuan-Yow   Wang Ellian   Lin Hsiu-Kuan   Lee Sue-Ping   Lu Hsin-Yi   Wang Chi-Kuang Leo   Tang Ming-Jer   Li Hung  

Human Molecular Genetics, Vol. 17, Iss. 21, 2008-11 ,pp. : 3368-3379

Oxford University Press

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Molecular Defects in Sanfilippo Syndrome Type A

By Blanch Lianne   Weber Birgit   Guo Xiao-Hui   Scott Hamish S.   Hopwood John J.  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 787-791

Oxford University Press

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Loss of holocytochrome c -type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome

By Prakash S.K.  

Human Molecular Genetics, Vol. 11, Iss. 25, 2002-12 ,pp. : 3237-3248

Oxford University Press

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Disruption of scribble ( Scrb1 ) causes severe neural tube defects in the circletail mouse

By Murdoch Jennifer N.  

Human Molecular Genetics, Vol. 12, Iss. 2, 2003-01 ,pp. : 87-98

Oxford University Press

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