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18篇 您的检索式：作者名="Aldahmesh"

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		题名	作者	年代	出处	被引量
	1	Mutation scanning by meltMADGE:Validations using BRCA 1 and LDLR,and demonstration of the potential to identify severe,moderate,silent,rare,and paucimorphic mutations in the general population显示文摘	Alharbi K K Aldahmesh M A Spanakis E	2005	Genome Res2005，15，7：	1
	2	Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C) 显示文摘	Khan A O Aldahmesh M A Meyer B	2007	Am J Ophthalmol2007，144，：	1
	3	Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation( R54C ) 显示文摘	Khan AO Aldahmesh MA Meyer B	2007	Am J Ophthalmol2007，144，：	1
	4	The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ( MMCAT ) Is Caused by Mutations in ADAMTS18显示文摘	Mohammed A. Aldahmesh Muneera J. Alshammari Arif O. Khan Jawahir Y. Mohamed Fatimah A. Alhabib Fowzan S. Alkuraya	2013	Human Mutation2013，，9：	1
	5	Mutations in LRPAP1 Are associated with severe myopia in humans显示文摘	Aldahmesh MA Khan AO Alkuraya H	2013	The American Journal of Human Genetics2013，93，2：	1
	6	Phenotype-genotype correlation in potential female car- viers of X-linked developmental cataract( Nanee-Horan syn- drome) 显示文摘	KHAN AO ALDAHMESH MA MOHAMED JY ALKURAYA FS	2012	Ophthalmic Genet2012，33，2：	1
	7	Allelic heterogeneity in inbred populations:the Saudi experience with Alstrom syndrome as an illustrative example 显示文摘	Aldahmesh MA Abu-Safieh L Khan AO	2009	Am J Med Genet A2009，149，4：	1
	8	Genetic and ge- nomic analysis of classic aniridia in Saudi Arabia 显示文摘	KHAN A ALDAHMESH M ALKURAYA F	2011	Mol Vis2011，17，3：	1
	9	Heterozygous FOXC1 mutation(M161K) associated with congenital glau- coma and aniridia in an infant and a milder phenotype in her mother 显示文摘	KHAN AO ALDAHMESH MA AL-AMRI A	2008	Ophthalmic Genet2008，29，2：	1
	10	Muta- tions in LRPAP1 are associated with severe myopia in humans 显示文摘	ALDAHMESH MA KHAN AO ALKURAYA H	2013	Am J Hum Genet2013，93，2：	1
	11	Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families显示文摘	Khan AO Aldahmesh MA Ghadhfan FE	2009	Mol Vis2009，15，：	1
	12	Molecular characteriza- tion of newborn glaucoma including a distinct aniridic phe- notype 显示文摘	KHAN AO ALDAHMESH MA AL-ABDI L MOHAMED JY HASHEM M AL-GHAMDI I	2011	Ophthalmic Gene2011，32，3：	1
	13	Mutations in LR- PAP1 are associated with severe myopia in humans显示文摘	Aldahmesh MA Khan AO Alkuraya H	2013	Am J Hum Genet2013，93，2：	1
	14	PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia显示文摘	Khan AO Aldahmesh MA		0，，：	1
	15	Identification of ADAMTS18 as a gene mutated in Knobloch syndrome显示文摘	ALDAHMESH MA KHAN AO MOHAMED JY		0，，09：	1
	16	Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)显示文摘	Khan AO Aldahmesh MA Meyer B	2007	Am J Ophthalmol2007，144，：	1
	17	Recessive congenital to- tal cataract with microcomea and heterozygote carrier signs caused by a novel missense CRYAA mutation ( R54C ) 显示文摘	Khan AO Aldahmesh MA Meyer B	2007	Am J Ophthalmol2007，144，6：	1
	18	Molecular characterization of retinitis pigmentosa in Saudi Arabia 显示文摘	Aldahmesh MA Safieh LA Alkuraya H	2009	Mol Vis2009，24，15：	1

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