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19篇 您的检索式：作者名="Smith FJD"

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		题名	作者	年代	出处	被引量
	1	Novel proline substitution mutations inkeratin 16 in two cases of pachyonychia congenita type l显示文摘	Smith FJD Del Monaco M Steijlen PM	1999	Br J Dermatol1999，141，6：	1
	2	Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma显示文摘	Smith FJD Fisher MP Healy E	2000	Exp Dermatol2000，9，3：	1
	3	Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16显示文摘	Connors JB Rahil AK Smith FJD	2001	Br J Dermatol2001，144，5：	1
	4	A new gene for pachyonychia congenitatype 2-Keratin K6B is the expression partner of K17 in epidermal appendages显示文摘	McLean WHI Smith FJD van Goor H	1998	J Invest Dermatol1998，110，4：	1
	5	Keratinl7 mutations cause either steatocystoma multiplex or pachyonychia congenitatype 2显示文摘	Covello SP Smith FJD Smitt JHS	1998	Br J Dermatol1998，139，3：	1
	6	Novel keratin 17 mutations in pachyonychia congenita type 2显示文摘	Smith FJD Coleman CM Bayoumy NM	2001	J Invest Dermatol2001，116，5：	1
	7	Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenital type 1 显示文摘	SMITH FJD MEKUSICK VA NIELSEN K	1999	Prenatal Diagnosis1999，19，10：	1
	8	A new type of pachyonychia congenital显示文摘	Van Steensel MAM Smith FJD Steijlen PM	2001	Eur J Dermatol2001，11，3：	1
	9	Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1 显示文摘	Smith FJD Mckusick VA Nielsen K	1999	Prenatal Diagnosis1999，19，10：	1
	10	A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy显示文摘	Coleman CM Hannush S Covello SP Smith FJD Uitto J Mclean WHI	1999	Am J Ophthalmol1999，128，：	1
	11	Loss - of - function mutations in the gene encoding filaggrin cause ichthyosis vulgaris显示文摘	Smith FJD Irvine AD Terron Kwiatkowski A	2006	Nat Genet2006，38，：	1
	12	Loss of function mutations in the gene encoding filaggrin causes ichthyosis vulgaris显示文摘	Smith FJD Irvine AD Terron-Kwiatkowski A	2006	Nat Genet2006，38，3：	1
	13	Filaggrin' s fuller figure:a 6limpse into the genetic architecture of atopic dermatitis显示文摘	San&lands A Smith FJD Irvine A D	2007	Journal of Investigative Dermatology2007，127，6：	1
	14	The gene for hypertrichosis of Marie Unna maps between D8S258 and D8S298 :exclusion of the hr gene by cDNA and genomic sequencing显示文摘	Van Steensel M Smith FJD Steijlen PM	1999	Am J Hum Genet1999，65，：	1
	15	Statins down- regulate K6a promoter activity: A possible therapeutic avenue for pachyonychia congenita显示文摘	ZHAO Y GARTNER U SMITH FJD	2011	J Invest Dermatol2011，131，5：	1
	16	Loss - of - function mutations in the gene encoding filaggrin cause ichthyosis vulgaris显示文摘	Smith FJD Irvine AD Terron Kwiatkowski A	2006	Nat Genet2006，38，：	1
	17	Cloning of multiple K16 genes and genotype - phenotype correlation in pachyonychia congenital type Ⅰ and focal PPK 显示文摘	SMITH FJD STEIJLEN PM	1998	J Invest Dermatol1998，110，：	1
	18	Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type Ⅰ显示文摘	SMITH FJD DEL MONACO M STEULEN PM	1999	Br J Dermatol1999，141，6：	1
	19	A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1 显示文摘	Smith FJD Mckemma KE Irvine AD	1999	Exp Dermatol1999，8，2：	1

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