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22篇 您的检索式：期刊名="AmJ Med Genet A"

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	题名	作者	年代	出处	被引量
1	Clinical application of genetic testing for deafness 显示文摘	Smith RJ	2004	AmJ Med Genet A2004，，：	1
2	Angelman syndrome 2005: updated consensus for diagnostic criteria 显示文摘	WilLiams CA Beaudet AL Clayton-Smith J	2006	AmJ Med Genet A2006，140，：	1
3	Long-term survival in StuveWiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia显示文摘	Di Rocco M Stella G Bruno C	2003	AmJ Med Genet A2003，118，4：	1
4	Genotype - phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B) 显示文摘	Panagiotakaki E Tzetis M Manolaki N	2004	AmJ Med Genet A2004，131，2：	1
5	Clinical manifestations and management of four children with Pearson syndrome显示文摘	Tumino M Meli C Farruggia P	2011	AmJ Med Genet A2011，155，12：	1
6	Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia显示文摘	Wieacker P Muschke P Pollak KH	2005	AmJ Med Genet A2005，132，：	1
7	A comprehensive description of the severity groups in Cockayne syndrome显示文摘	Natale V	2011	AmJ Med Genet A2011，155，10：	1
8	New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia显示文摘	Song SH Balce GC Agashe MV Lee H Hong SJ Park YE	2012	AmJ Med Genet A2012，158，10：	1
9	Ectodermal dysplasia- like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome显示文摘	Rifai L Port-Lis M Tabet AC	2010	AmJ Med Genet A2010，152，1：	1
10	Wholegenome array CGH indentifies novel contiguous gene deletions and duplications associated with deelopmentaldelay,mental retardation,and dysmorphic features显示文摘	Aradhya S Manning MA Splendore A	2007	AmJ Med Genet A2007，143，13：	1
11	Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region显示文摘	Strehle EM Yu L RosenfeldJA Donkervoort S Zhou Y Chen TJ	2012	AmJ Med Genet A2012，158，9：	1
12	Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients显示文摘	Wiktor AE Van Dyke DL	2005	AmJ Med Genet A2005，138，3：	1
13	Molecular aspects of hypohidrotic ectodermal dysplasia显示文摘	Mikkola M	2009	AmJ Med Genet A2009，149，9：	1
14	Chautard-Freire-Maia EA: Ectodermal dysplasias: clinical and molecular review显示文摘	Visinoni AF Lisboa-Costa T Pagnan NA	2009	AmJ Med Genet A2009，149，9：	1
15	A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene显示文摘	Chen M Kuo HH Huang YC	2009	AmJ Med Genet A2009，149，7：	1
16	Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity显示文摘	MinerJH	2010	AmJ Med Genet A2010，152，8：	1
17	Analysis of NFI transcriptional regulatory dements显示文摘	FRIEDMAN J M	2005	AmJ Med Genet A2005，137，2：	1
18	DPAGTI-CDG: report ofa patient with fetal hypokinesia phenotype显示文摘	Carrera lA Matthijs G Perez B	2012	AmJ Med Genet A2012，158，8：	1
19	Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability显示文摘	Gal M Levanon EY Hujeirat Y Khayat M Pe' erJ Shalev S	2014	AmJ Med Genet A2014，164，12：	1
20	A novel KIFll mutation in a Turkish patient with microcephaly , lymphedema, and chorioretinal dysplasia from a consanguineous family显示文摘	Hazan F Ostergaard P Ozturk T Kantekin E Atlihan F Jeffery S	2012	AmJ Med Genet A2012，158，7：	1

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