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24篇 您的检索式：作者名="Gecz"

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	题名	作者	年代	出处	被引量
1	Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not显示文摘	Gecz J Shaw M A Bellon J R	2003	Gene2003，320，：	1
2	Gene structure and expression study of the SEDL gene for spandyloepiphyseal dysplasia tarda显示文摘	Gecz J Hillman M A Gedeon A K	2000	Genomics2000，69，2：	1
3	Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda显示文摘	Gecz J Hillman MA Gedeon AK	2000	Genomics2000，69，2：	1
4	Genetics of the epilepsies: genetic twists in the channels and other tales显示文摘	Scheffer IE Zhang YH Gecz J	2010	Epilepsia2010，51，1：	1
5	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations显示文摘	Gecz J	2000	J Med Genet2000，37，10：	1
6	Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1显示文摘	Barnett C P Mencel J J Gecz J	2012	American Journal of Medical Genetics2012，158，12：	1
7	XLMR genes: update 2007显示文摘	Chiurazzi P Schwartz CE 2 Gecz J	2008	Eur J Hum Genet2008，16，：	1
8	Genes for cognitive function:developments on the X显示文摘	Gecz J Mulley J	2000	Genome Res2000，10，：	1
9	Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda显示文摘	Gecz J Hillman MA GedeonAK		0，，：	1
10	Nance-Horan syndrome protein, NHS, associ- ates with epithelial cell junctions 显示文摘	SHARMA S ANG SL SHAW M MACKEY DA GECZ J MCA- VOY JW	2005	Hum Mol Genet2005，15，12：	1
11	Spondyloepiphyseal dysplasia tarda(SEDL,MIM#313400)显示文摘	SAVARIRAYAN R THOMPSON E GECZ J	2003	European Journal of Human Genetics2003，11，9：	1
12	Rett syndrome : clinical review and genetic update 显示文摘	Weaving LS Ellaway C J Gecz J	2005	J Med Genet2005，42，1：	1
13	XLMR genes: update 2007显示文摘	Chiurazzi P Schwartz C E Gecz J	2008	Eur J Hum Genet2008，16，4：	1
14	FMR2 expression in families with FRAXE mental retardation显示文摘	Gecz J Oostra BA Hockey A	1997	Hum Mol Genet1997，6，3：	1
15	A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability显示文摘	Huang L Poke G Gecz J	2012	Am J Med Genet A2012，158，10：	1
16	Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda显示文摘	Gecz J Hillman MA Gedeon AK	2000	Genomics2000，69，2：	1
17	RETr syndrome: clinical review and genetic update显示文摘	Weaving LS Ellaway C J Gecz J	2005	J Med Genet2005，42，1：	1
18	Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1显示文摘	Christopher P. Barnett Justin J. Mencel Jozef Gecz Wendy Waters Susan M. Kirwin Kathy M. B Vinette Miriam Uppill Jillian Nicholl	2012	Am. J. Med. Genet2012，，12：	1
19	La FAM fatale:USP9X in development and disease显示文摘	Murtaza M Jolly LA Gecz J	2015	Cell Mol Life Sci2015，72，11：	1
20	ARX spectrum disorders: making inroads into the molecular pathology 显示文摘	Shoubridge C Fullston T Gecz J	2010	Hum Mutat2010，31，8：	1

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