Published in Ann Med on February 01, 1999
Multilevel analysis of ADHD, anxiety and depression symptoms aggregation in families. Eur Child Adolesc Psychiatry (2014) 0.81
A case of familial isolated hemihyperplasia. BMC Med Genet (2004) 0.81
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet (2001) 1.79
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet (2005) 1.78
Homozygous premature truncation of the HERG protein : the human HERG knockout. Circulation (1999) 1.71
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J Med Genet (2013) 1.51
[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years]. Ned Tijdschr Geneeskd (2007) 1.46
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci U S A (1995) 1.19
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet (2003) 1.13
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet (2006) 1.10
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996. Cytogenet Cell Genet (1996) 0.98
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. Eur J Med Genet (2009) 0.92
An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics (1994) 0.89
Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol (1996) 0.88
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet (1995) 0.88
[Probability distribution of population forecasts]. Maandstat Bevolking (1998) 0.82
Growth regulation of extraembryonic tissues. The effect of genomic imprinting on development of the placenta. Eur J Obstet Gynecol Reprod Biol (1997) 0.80
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. Neth Heart J (2010) 0.80
Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. Neth Heart J (2011) 0.80
Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2. Genomics (1997) 0.79
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients. Eur J Cancer (2012) 0.78
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet (2004) 0.78
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. Ann Noninvasive Electrocardiol (2013) 0.75
Ultrastructural manifestations of cellular radiation dose. Radiology (1967) 0.75