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18篇 您的检索式:作者名="Sybert VP"
    题名 作者 年代 出处 被引量
1Phenotype and X inactivation in 45,X/46,X,r(X) cases显示文摘Leppig KA Sybert VP Ross JL 2004Am J Med Genet A2004,128,3:1
2Turner' s syndrome显示文摘Sybert VP McCauley E 2004N Engl J Med2004,351,:1
3Severe skin erosions and scalp infections in AEC syndrome显示文摘Vanderhooft SL Stephan M J Sybert VP 1993Pediatr Dermatol1993,10,4:1
4Dermatologic findings of ankyioblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome显示文摘Julapalli MR Scher RK Sybert VP 2009Am J Med Genet A2009,149,9:1
5Cyclic iehthyosis with epiderrnolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin KI显示文摘Sybert VP Francis JS Corden LD 1999Am J Hum Genet1999,64,3:1
6Ichthyosis vulgaris identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules 显示文摘Sybert VP Dale BA Holbrook KA 1985J Invest Dermatol1985,84,3:1
7Turner's syndrome 显示文摘Sybert VP McCatdey E 2004N Engl JMed2004,351,:1
8Iehthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules显示文摘Sybert VP Dale BA Holbrook KA 1985J Invest Dermatol1985,84,3:1
9Turner' s syndrome显示文摘Sybert VP McCauley E 2004New Engl J Med2004,351,12:1
10Hereditary woollyhair and keratosis pilaris显示文摘Chien AJ Valentine MC Sybert VP 2006J Am Acad Dermatol2006,54,2:1
11Turner's Syndrome显示文摘Sybert VP McCauley E 0,,:1
12Turner's syndrome显示文摘Sybert VP McCauley E 2004N Engl J Med2004,351,12:1
13A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara:implications for diagnosis 显示文摘Stephens K Sybert VP Wijsman EM 1993Invest Dermatol1993,101,:1
14Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex显示文摘Mitchell AL Parisi MA Sybert VP 2003Genet Med2003,5,3:1
15Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules 显示文摘Sybert VP Dale BA Holbrook KA 1985J Invest Dermatol1985,84,3:1
16Ichthyosis vulgaris:identification of a defect in SyntHesis of filaggrin correlated with an absence of keratohyalinegranules显示文摘Sybert VP Dale BA Holbrook KA 1985Inv-est Dermatol1985,84,3:1
17Aplasia cutis congenital: a report of 12 new families and review of literature显示文摘Sybert VP 1985Pediatr Dermatol1985,2,:1
18Phenotype and X inactivation in 45 ,X/46,X,r(X) cases显示文摘Leppig KA Sybert VP Ross JL 2004Am J Med Genet2004,128,3:1
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