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Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.Helicobacter|August 8, 2002
The role of the Ferric Uptake Regulator (Fur) in regulation of Helicobacter pylori iron uptakeArnoud H M van Vliet, Jeroen Stoof, Ronald Vlasblom, et al.Applied and Environmental Microbiology|February 18, 2025
Campylobacter jejuni ST353 and ST464 cause localized gut inflammation, crypt damage, and extraintestinal spread during large- and small-scale infection in broiler chickensHeather M Chick, Lisa K Williams, Nick Sparks, et al.Journal of Medical Genetics|July 5, 2005
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2M E Baser, L Kuramoto, R Woods, et al.American Journal of Human Genetics|December 15, 2000
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertensionR D Machado, M W Pauciulo, J R Thomson, et al.Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.Nature|June 6, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.Pageof 17