Published in Am J Med Genet A on May 01, 2003
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol (2012) 1.93
Human cytomegalovirus infection is detected frequently in stillbirths and is associated with fetal thrombotic vasculopathy. J Infect Dis (2011) 1.70
Successful treatment of kaposiform hemangioendothelioma and tufted angioma with vincristine. J Pediatr Hematol Oncol (2010) 1.41
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res (2012) 1.26
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord (2010) 1.01
Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr (2007) 1.01
Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00
Human cytomegalovirus-induces cytokine changes in the placenta with implications for adverse pregnancy outcomes. PLoS One (2012) 0.98
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol (2004) 0.95
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant (2004) 0.94
Optimal duration of cooling for an acute scald contact burn injury in a porcine model. J Burn Care Res (2008) 0.93
Desmoplastic infantile ganglioglioma/astrocytoma with cerebrospinal metastasis. J Clin Neurosci (2007) 0.91
X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain Dev (2005) 0.91
A novel form of ischio-vertebral syndrome. Skeletal Radiol (2006) 0.90
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. JIMD Rep (2014) 0.88
Hepatocellular carcinoma in children with Alagille syndrome. J Pediatr Gastroenterol Nutr (2005) 0.87
Primary cutaneous lymphoblastic lymphoma in children: series of eight cases with review of the literature. Pathology (2009) 0.84
Ectopic nephrogenic rests in children: the clinicosurgical implications. J Pediatr Surg (2009) 0.84
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet (2011) 0.84
A new form or a variant of SMD type A4. J Appl Genet (2012) 0.82
Diagnosis of pediatric genitourinary embryonal rhabdomyosarcoma by urine cytology: a case report. Acta Cytol (2007) 0.81
A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr (2008) 0.81
Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 0.81
Utility of newborn screening cards for detecting CMV infection in cases of stillbirth. J Clin Virol (2009) 0.80
Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A (2009) 0.80
Delayed cooling of an acute scald contact burn injury in a porcine model: is it worthwhile? J Burn Care Res (2009) 0.80
Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease. J Pediatr Orthop B (2003) 0.79
Assessment of cooling on an acute scald burn injury in a porcine model. J Burn Care Res (2007) 0.79
Transitional cell papilloma of the bladder in a child: a case report and review of literature. J Pediatr Urol (2005) 0.78
Great vessel/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Pediatr Blood Cancer (2010) 0.78
A method for developing standardised interactive education for complex clinical guidelines. BMC Med Educ (2012) 0.77
Familial pleuropulmonary blastoma in Australia. Pediatr Blood Cancer (2010) 0.77
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscul Disord (2011) 0.77
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet A (2010) 0.76
Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other. Am J Med Genet A (2010) 0.75
Severe, atypical form of dyschondrosteosis (report of two cases). Eur J Pediatr (2005) 0.75
Images in cardiovascular medicine. Incessant ventricular tachycardia in an infant treated with transmural radiofrequency ablation. Circulation (2002) 0.75
Severe neonatal eosinophilic enterocolitis treated with immunosuppressive drugs. J Pediatr Gastroenterol Nutr (2010) 0.75
Intrathyroid dermoid cyst presenting as a unilateral "Cold" nodule. Pediatr Surg Int (2005) 0.75
Expansion of Carraro syndrome or a new disorder? Eur J Pediatr (2009) 0.75
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. J Pediatr Orthop B (2008) 0.75
Extralobar pulmonary sequestration in association with congenital cystic adenomatoid malformation: an unusual abdominal mass. ANZ J Surg (2012) 0.75
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. Am J Med Genet A (2007) 0.75
Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome. J Neurosurg Pediatr (2010) 0.75
Gracile bone dysplasias. Pediatr Radiol (2002) 0.75
Mucoepidermoid carcinoma of the bronchus in a 15-year-old girl with complex cytogenetic rearrangement involving 11q and over-expression of cyclin D1. Med Pediatr Oncol (2002) 0.75
Tributes. S Afr Med J (2016) 0.75
Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association. Nephrol Dial Transplant (2006) 0.75