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16篇 您的检索式：作者名="Gronskov"

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		题名	作者	年代	出处	被引量
	1	The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs 显示文摘	Ostergaard E Montserrat B Gronskov K	2002	Clin Genet2002，62，4：	1
	2	Oculocutaneous albinism显示文摘	Karen Gronskov Jakob Ek Karen Brondum - Nielsen	2007	Orphanet Journal of Rare Disease2007，2，43：	1
	3	Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism显示文摘	Gronskov K Ek J Sand A	2009	Invest Ophthalmol Vis Sci2009，50，3：	1
	4	Mutational analysis of PAX6 : 16 novel mutations including 5 missense mutations with a mild aniridia phenotype 显示文摘	GRONSKOV K ROSENBERG T SAND A BRONDUM-NIELSEN K	1999	Eur J Hum Gevtet1999，7，3：	1
	5	The A1555G mtDNA mutation in Danish hearing-impaired patients:frequency and clinical signs显示文摘	OStergaard E Montserrat-Sentis B Gronskov K	2002	Clin Genet2002，62，：	1
	6	High-throughout analysis of fragile Ⅹ(CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis 显示文摘	Larsen L A Gronskov K Norgaars-Pedersen B	1997	Hum Genent1997，100，：	1
	7	A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile Ⅹ syndrome显示文摘	Dahl C Gronskov K Larsen L A etal	2007	Clin Chem2007，53，4：	1
	8	Oculocutaneous albinism显示文摘	Gronskov K Ek J Brondum-Nielsen K	2007	Orphanet J Rare Dis2007，2，：	1
	9	Mutational analysis of PAX6:16 novel mutations including 5 missense mutations with a mild aniridia phenotype显示文摘	Gronskov K Rosenberg T Annie S		0，，3：	1
	10	The A1555G mtDNA mutation in Danish hearing impaired patients: frequency and clinical signs显示文摘	OSTERGAARD E MONTSERRAT-SENTIS B GRONSKOV K	2002	Clin Genet2002，62，：	1
	11	Oculocutaneous albinism显示文摘	Gronskov K Ek J Brondum-Nielsen K	2007	Orphanet J Rare Dis2007，2，1：	1
	12	Mutational analysis of PAX6:16 novel mutations including 5 missense mutations with a mild aniridia phenotype显示文摘	Gronskov K Rosenberg T Sand A	1999	Eur J Hum Genet1999，7，：	1
	13	A homogeneousas- say for analysis of FMRI promoter methylation in patients with fragile X syndrome显示文摘	Dahl C Gronskov K Larsen L A	2007	Clin Chem2007，53，4：	1
	14	The A1555G mtDNA mutation in Danish hearing-impaired patients:frequency and clinical sign显示文摘	Ostergaard E Montserrat-Sentis B Gronskov K	2002	Clin Genet2002，62，：	1
	15	Anovel founderBBS1 mutation explains a unique high prevalenc e of Bardet-Biedl Syn-drome in the Faroe Islands显示文摘	Hjortshoj TD Gronskov K Brondum-Nielsen K	2009	Br J Ophthalmol2009，93，9：	1
	16	Oculocutaneous albinism显示文摘	Gronskov K Ek J Brondum-Nielsen K		Orphanet J Rare Dis0，2，1：	1

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