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Online Mendelian Inheritance In Man

Known as: OMIM, online mendelian inheritance in man (OMIM) database 
This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and… 
National Institutes of Health

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Broader (1)

Databases, Genetic
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Papers overview

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Review
2015
Review
2015
Rhizomelic Chondrodysplasia Punctata: A Case Report
Rhizomelic Chondrodysplasia Punctata (RCDP), a rare autosomal recessive disorder due to defective peroxisome metabolism, is… 
2012
2012
The Genetics of CFTR: Genotype - Phenotype Relationship, Diagnostic Challenge and Therapeutic Implications
Cystic fibrosis (CF; OMIM 602421, see OMIM link in the website section) is the most common lethal genetic disease of the… 
2010
2010
Proposta de um modelo de avaliação das actividades de ensino Online : um estudo do ensino superior português
2007
2007
[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children].
INTRODUCTION Defects of methionine synthase or methionine synthase reductase result in an impaired remethylation of homocysteine… 
Review
2005
Review
2005
Health care rights and responsibilities: a review of the European charter of patients' rights.
This review of the European Charter of Patients' Rights includes chapters on the different kinds of rights found in Irish law… 
2003
2003
Comportamento do consumidor online: perfil, uso da internet e atitudes
2003
2003
Ensino online : contextos e interacções
Tese de Doutoramento em Ciencias da Educacao na especialidade em Ensino a Distância apresentada a Universidade Aberta 
2001
2001
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene
Abstract Ectodermal dysplasias are a group of congenital disorders with defective development of the epidermis and its appendages… 
1976
1976
Current concepts in genetics: genetics as a health-care service.
While 25 years ago the medical application of genetics consisted mainly of counseling a relatively small group of families in… 
1954
1954
A report of seven cases of chondro-osteo-dystrophy (Morquio's disease).
Since its first description by Morquio (1929) this disease has been observed in most European races and in coloured people but…