常用资源电子图书期刊论文学位会议外文资源特色专题内部出版物 
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在“SpringerLink电子期刊”中，命中：6条，耗时：小于0.01 秒

在所有数据库中总计命中：7条

4. De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
作者：Carlotta Maria Vaccari (1)
Maria Victoria Romanini (2)
Ilaria Musante (1)
Elisa Tassano (3)
Stefania Gimelli (4)
Maria Teresa Divizia (3)
Michele Torre (5)
Carmen Gloria Morovic (6)
Margherita Lerone (3)
Roberto Ravazzolo (1) (3) (7)
Aldamaria Puliti (1) (3) (7)

1. Department of Neurosciences ; Rehabilitation ; Ophthalmology ; Genetics ; Maternal and Child Health (DiNOGMI) ; University of Genoa ; Genoa ; Italy
2. Plastic and Reconstructive Surgery Unit ; IST - San Martino Hospital and University of Genoa ; Genoa ; Italy
3. Medical Genetics Unit ; Istituto Giannina Gaslini ; via G. Gaslini 5 ; 16148 ; Genoa ; Italy
4. Service of Genetic Medicine ; University Hospitals of Geneva ; Geneva ; Switzerland
5. Pediatric Surgery Unit ; Istituto Giannina Gaslini ; Genoa ; Italy
6. Pediatric Plastic Surgery Unit ; Dr. Luis Calvo Mackenna Hospital ; Santiago ; Chile
7. CEBR ; University of Genoa ; Genoa ; Italy
刊名：BMC Medical Genetics
出版年：2014
5. Developing a provisional, international Minimal Dataset for Juvenile Dermatomyositis: for use in clinical practice to inform research
作者：Liza J McCann (1)
Katie Arnold (2)
Clarissa A Pilkington (2) (4)
Adam M Huber (5)
Angelo Ravelli (6)
Laura Beard (2)
Michael W Beresford (1) (7)
Lucy R Wedderburn (2) (3) (4)
the UK Juvenile Dermatomyositis Research Group (JDRG) (4)

1. Alder Hey Children鈥檚 NHS Foundation Trust ; Eaton Road ; Liverpool ; L12 2AP ; UK
2. Rheumatology Unit ; UCL Institute of Child Health ; University College London ; London ; UK
4. Great Ormond Street Hospital ; London ; UK
5. IWK Health Centre and Dalhousie University ; 5850 University Avenue ; Halifax ; NS ; B3K 6R8 ; Canada
6. Universit脿 degli Studi di Genova and Istituto Giannina Gaslini ; Largo G. Gaslini 5 ; 16147 ; Genoa ; Italy
7. Department of Women鈥檚 and Children鈥檚 Health ; Institute of Translational Medicine ; University of Liverpool ; Liverpool ; UK
3. Centre for Adolescent Rheumatology at University College London ; University College London Hospital ; London ; UK
刊名：Pediatric Rheumatology
出版年：2014
6. MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
作者：Marco Savarese (1) (2)
Giuseppina Di Fruscio (1) (2)
Margherita Mutarelli (2)
Annalaura Torella (1)
Francesca Magri (3)
Filippo Maria Santorelli (4)
Giacomo Pietro Comi (3)
Claudio Bruno (5)
Vincenzo Nigro (1) (2)

1. Laboratorio di Genetica Medica ; Dipartimento di Biochimica ; Biofisica e Patologia generale ; Seconda Universit脿 degli Studi di Napoli ; Napoli ; Italy
2. Telethon Institute of Genetics and Medicine ; Napoli ; Italy
3. Dino Ferrari Center ; IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico ; Neuroscience Section ; Dipartimento di Fisiopatologia medico-chirurgica e dei trapianti ; Universit脿 di Milano ; Milano ; Italy
4. Molecular Medicine and Neuromuscular Lab ; IRCCS Stella Maris ; Pisa ; Italy
5. Centro di Miologia e Patologie Neurodegenerative ; IRCCS Istituto Giannina Gaslini ; Genova ; Italy
刊名：Acta Neuropathologica Communications
出版年：2014
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