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National Institute on Population Medical Genetics | Researchclopedia

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National Institute on Population Medical Genetics

Porto Alegrefacility

884

Works

54,615

Citations

105

h-index

Top Research Topics

Lysosomal Storage Disorders Research Trypanosoma species research and implications Glycogen Storage Diseases and Myoclonus

Top Researchers

Kaare Christensen Sutter Health

1,376 works76,245 citationsh-index: 122

Recent Research

A suspicion index tool to aid the diagnosis and treatment of ASMD

Anna-Maria Wiesinger,Georg Zimmermann,et al.

20260 citations

Carbohydrate Chemistry and Synthesis

Metabolism and Genetic Disorders

Cleft Lip and Palate Research

Mitochondrial Function and Pathology

Genomics and Rare Diseases

Folate and B Vitamins Research

Craniofacial Disorders and Treatments

Biomedical Research and Pathophysiology

Autoimmune and Inflammatory Disorders Research

Toby Johnson Gladstone Institutes

297 works66,930 citationsh-index: 100

Bruno Dallapiccola Bambino Gesù Children's Hospital

1,756 works52,886 citationsh-index: 105

Elaine H. Zackai Children's Hospital of Philadelphia

1,093 works49,610 citationsh-index: 113

Luís Augusto Rohde

797 works43,102 citationsh-index: 78

Jeffrey C. Murray University of Iowa

641 works43,036 citationsh-index: 100

Economic Evaluation of Transcatheter Versus Surgical Aortic Valve Replacement for Severe Aortic Stenosis in Brazil´s Public Health System: Bridging the Financial Gap

Rodrigo Petersen Saadi,Ana Paula Beck da Silva Etges,et al.

20260 citations

Epidemiology of rare disease mortality in Argentina (1997–2017)

Arturo Leonardo Morales,José Edgardo Dipierri,et al.

20260 citations

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation

Nandita Mukhopadhyay,Eleanor Feingold,et al.

20260 citations

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey

Barbara K. Burton,Nathalie Guffon,et al.

20260 citations

Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil

Fabyanne Guimarães de Oliveira,George Octávio da Costa Salecker,et al.

20260 citations