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53篇 您的检索式：期刊名="Orphanet Journal of Rare Diseases"

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	题名	作者	年代	出处	被引量
1	Oculocutaneous albinism显示文摘	Karen Gronskov Jakob Ek Karen Brondum - Nielsen	2007	Orphanet Journal of Rare Disease2007，2，43：	1
2	Osteosarcoma (osteogenic sarcoma)显示文摘	Picci P	2007	Orphanet journal of rare diseases2007，2，：	1
3	Rothmund-Thomson syndrome显示文摘	LARIZZA L ROVERSI G VOLPI L	2010	Orphanet Journal of Rare Diseases2010，5，2：	1
4	Past, present and fu- ture of hemophilia: a narrative review显示文摘	Franchini M Mannucci P M	2012	Orphanet Journal of Rare Diseases2012，7，5：	1
5	Pulmonary langerharts cell histiocytosis显示文摘	Suri H S Yi E S Nowakowski G S	2012	Orphanet Journal of Rare Diseases2012，7，：	1
6	Malignant mesothehoma显示文摘	Alastaur JM Robert JP John W	2008	Orphanet Journal of Rare Diseases2008，3，：	1
7	Pricing and reimbursement of orphan drugs:the need for more transparency显示文摘	Steven Simoens	2011	Simoens Orphanet Journal of Rare Diseases2011，6，：	1
8	et-thalassaemia显示文摘	Comelis H Douglas H	2010	Orphanet Journal of Rare Diseases2010，5，1：	1
9	Recurrent microdeletion at 17q12 as a cause of Mayer-Rokita- nsky-Kuster-Hauser(MRKH) syndrome: two case repo- rts 显示文摘	Bernardini L Gimelli S Gervasini C	2009	Orphanet Journal of Rare Diseases2009，4，：	1
10	Fabry disease 显示文摘	Germain DP	2010	Germain Orphanet Journal of Rare Diseases2010，5，：	1
11	Mayer-Rokitansky- Kuster-Hauser ( MRKH ) syndrome 显示文摘	Morcel K Camborieux L Programme de Recherches sur les Aplasies Malleriennes ( PRAM )	2007	Orphanet Journal of Rare Diseases2007，2，：	1
12	Mamtgement of adult patients with kangerhans cell hisliocytosis: recor, mendations from an expert panel on belialf of Euro-Histio- Net 显示文摘	girschikol'sky M Arico M Castillo D	2013	Orphanet Journal of rare diseases2013，8，1：	1
13	Suggerted guidelines for the diagnosis and management of urea cycle disorders 显示文摘	Haberle J Boddaet N Burlina	2012	Orphanet Journal of Rare Diseases2012，32，136：	1
14	Fabry disease 显示文摘	GERMAIN D P	2010	Orphanet Journal of Rare Diseases2010，5，：	1
15	Estimating the budget impact of orphan medicines in Eu- rope: 2010-2020 显示文摘	Carina Schey Tsveta Milanova Adam Hutchings	2011	Orphanet Journal of Rare Diseases2011，6，：	1
16	Acromegaly 显示文摘	Chanson P Salenave S	2008	Orphanet journal of Rare Diseases2008，3，：	1
17	Anorectal malformations显示文摘	Pena A Levitt MA	2007	Orphanet Journal of Rare Diseases2007，2，：	1
18	Autosomal recessive cerebellar ataxias 显示文摘	Palau F Espin6s C	2006	Orphanet Journal of Rare Diseases2006，1，1：	1
19	Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome显示文摘	Morcel K Camborieux L Guerrier D	2007	Orphanet Journal of Rare Diseases2007，2，1：	1
20	Retinitis pigmentosa显示文摘	Hamel C	2006	Orphanet Journal of Rare Diseases2006，1，1：	1

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