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Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 340-343

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Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene

By Shalitin S.   Josefsberg Z.   Vilain E.   Shomrat R.   Weintrob N.  

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Carrier Frequency of the Bloom Syndrome blm^Ash Mutation in the Ashkenazi Jewish Population

By Li L.   Eng C.   desnick R.J.   German J.   Ellis N.A.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 4, 1998-08 ,pp. : 286-290

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Linkage Analysis of the hph-1 Mutation and the GTP Cyclohydrolase I Structural Gene

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Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

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