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73篇 您的检索式：期刊名="Clin Dysmorphol"

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	题名	作者	年代	出处	被引量
1	Small inherited terminal duplication of 7q with hydrocephalus,cleft palate,joint con- tractures,and severe hypotonia显示文摘	Morava E Bartsch O Czako M	2003	Clin Dysmorphol2003，12，2：	1
2	A syndrome of leukonychia totalis and multiple sebaceous cysts显示文摘	Slee JJ Wallman IS Goldblatt J	1997	Clin Dysmorphol1997，6，3：	1
3	Novel splice (IVS18 q-IGC) mutation in COL2A1 causing Kniest dysplasia显示文摘	A1-Hashmi N Imtiaz F Ramzan K	2013	Clin Dysmorphol2013，22，1：	1
4	Clinical features of NSD1-positive Sotos syndrome显示文摘	Tatton-Brown K Rahman N	2004	Clin Dysmorphol2004，13，4：	1
5	Hypohidrotic ectodermal dysplasia with tibial aplasia显示文摘	Kaissi AA Ghachem MB Necib MN Chehida FB Karoui H Baraitser M	2002	Clin Dysmorphol2002，11，3：	1
6	Dandy-Walker anomaly inMeckel-Gruber syndrome显示文摘	Cincinnati P Neri ME Valentini A	2000	Clin Dysmorphol2000，9，1：	1
7	Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting and preaxial polydactyly syndrome显示文摘	Guion ML Richieri A	2000	Clin Dysmorphol2000，9，3：	1
8	Autosomal dominant Klippel-Feil anomaly with cleft palate显示文摘	Thompson E Haan E Sheffield L	1998	Clin Dysmorphol1998，7，1：	1
9	Expanding the pheno- type of 22qll deletion syndrome: the MURCS association 显示文摘	Uliana V Giordano N Caselli R	2008	Clin Dysmorphol2008，17，1：	1
10	Amniotic band sequence versus the autosomal recessive microcephaly,facial eleRing and preaxial polydaetyly syndrome显示文摘	Guion ML Richieri A	2000	Clin Dysmorphol2000，9，：	1
11	Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection 显示文摘	Prescott TE Rodningen OK Bjornstad A	2009	Clin Dysmorphol2009，18，2：	1
12	Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome显示文摘	Uluean I4 Koparir E Koparir A	2013	Clin Dysmorphol2013，22，2：	1
13	Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia显示文摘	Thiel CT Rosanowski F Kohlhase J	2005	Clin Dysmorphol2005，14，2：	1
14	The occurrence of Poland and Poland-Moebius syndromes in the same family:further evidence of their genetic component显示文摘	Larrandaburu M Schuler L Ehlers JA	1999	Clin Dysmorphol1999，8，2：	1
15	Familial megalencephaly with dilated Virchow-Robin spaces in meganetic resonance imaging:an autosomal recessive trait?显示文摘	Hartel C Bachmann S Bonnemann C	2005	Clin Dysmorphol2005，14，：	1
16	Occurrence of com- plete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations显示文摘	Cesaretti C Gentilin B Bianchi V	2011	Clin Dysmorphol2011，20，4：	1
17	Long-term survival in Patau syndrome显示文摘	TUNCA Y KANDALE JS PIVNICK EK	2001	Clin Dysmorphol2001，10，：	1
18	A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations显示文摘	Vermeer S van Oostrom CG Boetes C	2005	Clin Dysmorphol2005，14，4：	1
19	Report of two FOP cases with 617 G > A mutation in the ACVR1 gene from Chinese population 显示文摘	Guo H Peng D Xu M	2010	Clin Dysmorphol2010，19，4：	1
20	Further delineation of the 22q13 deletion syndrome显示文摘	Kirchhoff M Lundsteen C	2005	Clin Dysmorphol2005，14，2：	1

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