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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MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

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American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2469-2472

John Wiley & Sons Inc

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Mutations of the GREAT gene cause cryptorchidism

By Gorlov I.P.  

Human Molecular Genetics, Vol. 11, Iss. 19, 2002-07 ,pp. : 2309-2318

Oxford University Press

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Mutations in the Wolfram syndrome 1 gene ( WFS1 ) are a common cause of low frequency sensorineural hearing loss

By Kurnool P.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2501-2508

Oxford University Press

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Point Mutations and an Intragenic Deletion in LIS1 , the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

By Lo Nigro Cristiana   Chong Samuel S.   Smith Ann C. M.   Dobyns William B.   Carrozzo Romeo   Ledbetter David H.  

Human Molecular Genetics, Vol. 6, Iss. 2, 1997-01 ,pp. : 157-164

Oxford University Press

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