Published in Twin Res Hum Genet on August 01, 2011
Narrative review of telemedicine consultation in medical practice. Patient Prefer Adherence (2015) 0.91
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. Eur J Hum Genet (2015) 0.80
Telemedicine uptake among Genetics Professionals in Europe: room for expansion. Eur J Hum Genet (2015) 0.78
Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study. J Med Internet Res (2016) 0.76
Factors influencing the care provided for periviable babies in Australia: a narrative review. Reprod Health (2015) 0.75
Telegenetics: application of a tele-education program in genetic syndromes for Brazilian students. J Appl Oral Sci (2015) 0.75
What drives attitude towards telemedicine among families of pediatric patients? A survey. BMC Pediatr (2017) 0.75
An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 20.85
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum (2010) 1.66
Treg depletion inhibits efficacy of cancer immunotherapy: implications for clinical trials. PLoS One (2008) 1.49
The sphingosine 1-phosphate receptor agonist FTY720 differentially affects the sequestration of CD4+/CD25+ T-regulatory cells and enhances their functional activity. J Immunol (2005) 1.30
GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet (2006) 1.24
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol (2007) 1.15
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J Clin Invest (2002) 0.99
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span. J Clin Invest (2013) 0.98
The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health (2010) 0.95
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol (2008) 0.89
Treatment with anti-gremlin 1 antibody ameliorates chronic hypoxia/SU5416-induced pulmonary arterial hypertension in mice. Am J Pathol (2013) 0.85
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. Am J Med Genet A (2007) 0.82
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. Am J Med Genet A (2009) 0.79
Optimization aspects of comprehensive two-dimensional gas chromatography. J Chromatogr A (2012) 0.77
Primary corneal myxoma. Cornea (2008) 0.77
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. J Mol Med (Berl) (2015) 0.77
Ten-year review of Henoch-Schonlein purpura in Campbelltown Hospital, south-western Sydney. J Paediatr Child Health (2014) 0.75
Surgery in patients with Fuchs'. Ophthalmology (2006) 0.75
Case 32. Eosinophilia: reactive or neoplastic? Leuk Lymphoma (2007) 0.75
Preparing residents in training to become health-care leaders: a pilot project. Acad Psychiatry (2014) 0.75
Contact Lens-Related "Keratoschisis"-An Unusual Case of Corneal Stroma Lamellar Trauma. Cornea (2016) 0.75