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About
Virginia Proud
Author PubWeight™ 9.82
‹?›
Top papers
Rank
Title
Journal
Year
PubWeight™
‹?›
1
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis Rheum
2010
2.50
2
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses.
Int J Pediatr Otorhinolaryngol
2009
1.57
3
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.
Am J Med Genet A
2005
1.55
4
Further delineation of cardiac abnormalities in Costello syndrome.
Am J Med Genet
2002
1.26
5
Clinical comparison of overlapping deletions of 19p13.3.
Am J Med Genet A
2013
0.81
6
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Clin Chem
2005
0.80
7
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Mol Genet Metab
2010
0.76
8
Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians' early findings in the United States.
J Infus Nurs
2009
0.76
9
Neonatal upper airway obstruction in osteogenesis imperfecta: series of three cases and review of the literature.
Ann Otol Rhinol Laryngol
2008
0.75