Literature DB >> 4881779

Genetic heterogeneity.

B Childs, V M Der Kaloustian.   

Abstract

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Year:  1968        PMID： 4881779     DOI： 10.1056/NEJM196811282792206

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

Review 1.  Analytical review: the pathogenesis of diabetes mellitus and its relationship to biological aging.

Authors:  S Goldstein
Journal:  Humangenetik       Date:  1971

2.  The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

Authors:  C R Scriver; B Mahon; H L Levy; C L Clow; T M Reade; J Kronick; B Lemieux; C Laberge
Journal:  Am J Hum Genet       Date:  1987-05       Impact factor: 11.025

Review 3.  Glycogen storage diseases in animals and their potential value as models of human disease.

Authors:  H C Walvoort
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

4.  Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.

Authors:  P Guldberg; H L Levy; R Koch; C M Berlin; B Francois; K F Henriksen; F Güttler
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.

Authors:  S S Shapiro; J Martinez; R R Holburn
Journal:  J Clin Invest       Date:  1969-12       Impact factor: 14.808

6.  Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency.

Authors:  J B Nielsen; F Güttler; N Hobolth; T Tønnesen; O D Pedersen; C Lykkelund; F Rosleff
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

Review 7.  Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.

Authors:  Rahul Gannamani; Sterre van der Veen; Martje van Egmond; Tom J de Koning; Marina A J Tijssen
Journal:  Mov Disord Clin Pract       Date:  2021-03-02
  7 in total

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