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58篇 您的检索式：期刊名="Am J Med Genet Part A"

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	题名	作者	年代	出处	被引量
1	Three new pa- tients with FATCO : Fibular agenesis with ectrodactyly 显示文摘	Bieganski T Jamsheer A Sowinska A	2012	Am J Med Genet Part A2012，158，7：	1
2	A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus显示文摘	Mitsui T Nagasaki K Takagi M	2012	Am J Med Genet Part A2012，158，1：	1
3	SOX10 mutation in Waardenburg syndrome type II显示文摘	Iso M Fukami R Horikawa N	2008	Am J Med Genet Part A2008，146，16：	1
4	Poland syndrome with bilateral features:case description with review of the literature显示文摘	BABAN A TORRE M BIANCA S	2009	Am J Med Genet Part A2009，149，7：	1
5	Challenges in clinical interpretation of microduplications detected by array CGH analysis 显示文摘	Stankiewicz P Pursley AN Cheung SW	2010	Am J Med Genet Part A2010，152，5：	1
6	Elements of morphology: standard terminology for the ear 显示文摘	HunterA Frias JL Gillessen-Kaesbach G	2009	Am J Med Genet Part A2009，149，1：	1
7	Somatic/gonadal mosai- cism in a syndromic form of ectrodactyly, including eye abnor- malities, documented through array-based comparative genomic hybridization 显示文摘	Filho AB Souza J Faucz FR	2011	Am J Med Genet Part A2011，155，5：	1
8	lso\|ated oligodontia associated with mutation in EDARADD, AXIN2, MSX! and PAX9 genes 显示文摘	Bergendal B Klar J Stecksen-Blicks C	2011	Am J Med Genetics Part A2011，，：	1
9	Clinical features of 78 adults with 22qll deletion syndrome显示文摘	Bassett AS Chow EW Husted J	2005	Am J Med Genet Part A2005，138，4：	1
10	Clinical study of two brothers with a novel 33 bp duplication in the ARX gene显示文摘	Demos MK Fullston T Partington MW	2009	Am J Med Genet Part A2009，149，：	1
11	Congenital fibrosis of the extraocular muscles (CFEOM) syn- drome associated with progressive cerebellar ataxia显示文摘	Kunihiro Y Tomomi O Kenichi H Hiroyuld Y Kayo S Haruhiko B	2007	Am J Med Genet Part A2007，143，13：	1
12	Contraetions in the seeond poly A tract of ARX are rare, non-pathogenic polymorphisms 显示文摘	Conti V Marini C Mei D	2011	Am J Med Genet Part A2011，155，：	1
13	Can parents adjust to the idea that their child is at risk for a sudden death? Psychological impact of risk for long QT syndrome 显示文摘	Hendriks KS Grosfeld FJ van Tintelen JP	2005	Am J Med Genet Part A2005，138，：	1
14	Ecto- dermal dysplasias:clinical and molecular review显示文摘	Visinoni A F Lisboa-Costa T Pagnan N A B	2009	Am J Med Genet Part A2009，149，9：	1
15	Mutations in WNTlOA are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia显示文摘	Plaisancie J Bailleul-Forestier I Gaston V	2013	Am J Med Genet Part A2013，161，4：	1
16	Genetic counseling in Robertsonian translocations der( 13 ;lg) : Frequencies of reproductive outcomes and infertility in 101 pedigrees显示文摘	Engels H Eggerman H Eggerman T	2008	Am J Med Genet Part A2008，146，：	1
17	Clinical features of 78adults with 22q11 deletion syndrome显示文摘	Bassett AS Chow EW Husted J	2005	Am J Med Genet Part A2005，138，4：	1
18	Split-hand/ split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 显示文摘	Lyle R Radhakrishna U Blouin JL	2006	Am J Med Genet Part A2006，140，：	1
19	DLX3 mutation asso- ciated with autosomal dominant amelogenesis imperfecta with taurodontism显示文摘	Dong J Amor D Aldred MJ	2005	Am J Med Genet Part A2005，133，2：	1
20	Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome 显示文摘	KOSAKI R FUJIMARU R SAMEJIMA H	2007	Am J Med Genet Part A2007，143，10：	1

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