Molecular Genetics and Metabolism,volume 77,issue 4  (12-2003)

Period of time： 2003年4期

Publisher： Academic Press

Founded in： 1967

Total resources： 50

ISSN： 1096-7192

Subject： R3 Basic Medical

Favorite

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Molecular Genetics and Metabolism,volume 77,issue 4

Menu

Newborn screening: rationale for a comprehensive, fully integrated public health system

By McCabe L.L.,Therrell B.L.,McCabe E.R.B. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 267-273

Academic Press

Abstract Access to resources Recommend Favorite

Identification of the PPARA locus on chromosome 22q13.3 as a modifier gene in familial combined hyperlipidemia

By Eurlings P.M.H.,van der Kallen C.J.H.,Geurts J.M.W.,Flavell D.M.,de Bruin T.W.A. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 274-281

Academic Press

Abstract Access to resources Recommend Favorite

Variable clinical presentation of lysosomal β-mannosidosis in patients with null mutations

By Bedilu R.,Nummy K.A.,Cooper A.,Wevers R.,Smeitink J.,Kleijer W.J.,Friderici K.H. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 282-290

Academic Press

Abstract Access to resources Recommend Favorite

A new gene, EVC2, is mutated in Ellis–van Creveld syndrome

By Galdzicka M.,Patnala S.,Hirshman M.G., ,Nitowsky H.,A Egeland J.,Ginns E.I. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 291-295

Academic Press

Abstract Access to resources Recommend Favorite

Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy

By Wehrli S.L.,Reynolds R.,Chen J.,Yager C.,Segal S. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 296-303

Academic Press

Abstract Access to resources Recommend Favorite

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002

By Bernegger C.,Blau N. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 304-313

Academic Press

Abstract Access to resources Recommend Favorite

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

By Malloy P.J.,Zhu W.,Bouillon R.,Feldman D. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 314-318

Academic Press

Abstract Access to resources Recommend Favorite

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

By Chen R.,Tsuji T.,Ichida F.,Bowles K.R.,Yu X.,Watanabe S.,Hirono K.,Tsubata S.,Hamamichi Y.,Ohta J.,Imai Y.,Bowles N.E.,Miyawaki T.,Towbin J.A. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 319-325

Academic Press

Abstract Access to resources Recommend Favorite

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

By Battini R.,Leuzzi V.,Carducci C.,Tosetti M.,Bianchi M.C.,Item C.B.,Sto¨ckler-Ipsiroglu S.,Cioni G. in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 326-331

Academic Press

Abstract Access to resources Recommend Favorite

Volume Index

By in (2002)

Molecular Genetics and Metabolism,volume 77,issue 4 , Vol. 77, Iss. 4, 2002-12 , pp. 333-334

Academic Press

Abstract Access to resources Recommend Favorite

Previous 1 2 Next Display item(s) per page Total 11 item(s)