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European Journal of Human Genetics
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
. 29:271-279.
2021
Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities
2021
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
. 28:1422-1431.
2020
Haplotype-based stratification of Huntington's disease
. 25:1202-1209.
2017
A new mutation in GFAP widens the spectrum of Alexander disease
. 23:1-2.
2015
Brain tumor risk according to germ-line variation in the MLLT10 locus
. 23:132-134.
2015
Correction for multiple testing in a gene region
. 22:414-418.
2014
A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domain
. 22:594-601.
2014
The phenotype associated with a large deletion on MECP2
. 20:921-927.
2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome
. 20:618-625.
2012
Characterization of autosomal copy-number variation in African Americans: The HyperGEN Study
. 19:1271-1275.
2011
Variable selection in logistic regression for detecting SNP-SNP interactions: The rheumatoid arthritis example
. 16:735-741.
2008
Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
. 13:52-58.
2005
Combined analysis of genomewide scans for adult height: Results from the NHLBI family blood pressure program
. 11:271-274.
2003
Is DFNA5 a susceptibility gene for age-related hearing impairment?
. 10:883-886.
2002
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene
. 10:334-338.
2002
Genomic structure of the gene for the human p1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
. 8:163-166.
2000
Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2)
. 6:534-541.
1998
Refined genetic and physical mapping of BPES type II
. 4:34-38.
1996
Identity
International Standard Serial Number (issn)
1018-4813
Electronic International Standard Serial Number (eissn)
1476-5438