Conrad, Bernard

Title	Year	Hits	Downloads
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes	2012	489	2
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	2008	526	1757
Gene duplication: a drive for phenotypic diversity and cause of human disease	2007	490	0
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1	2007	489	0
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation	2007	468	0
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter	2005	464	0
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients	1998	486	0
		3412	1759

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