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OALib Journal期刊
ISSN: 2333-9721
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Orphanet Journal of Rare Diseases
ISSN Print: 1750-1172
ISSN Online:
主页:
http://www.ojrd.com
分享:
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Celiac disease
Wolfgang Holtmeier
,
Wolfgang F Caspary
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
Nikos Protonotarios
,
Adalena Tsatsopoulou
Dopamine beta-hydroxylase deficiency
Jean-Michel Senard
,
Philippe Rouet
Complete atrioventricular canal
Raffaele Calabrò
,
Giuseppe Limongelli
Systemic lupus erythematosus
Jessica J Manson
,
Anisur Rahman
Lowe syndrome
Mario Loi
Imerslund-Gr?sbeck syndrome (selective vitamin B12 malabsorption with proteinuria)
Ralph Gr?sbeck
Orphanet Journal of Rare Diseases: Launch Editorial
Ségolène Aymé
,
Bruno Dallapiccola
,
Dian Donnai
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
Fran?ois Lanza
Coronary arterial fistulas
Shakeel A Qureshi
Autosomal recessive cerebellar ataxias
Francesc Palau
,
Carmen Espinós
Multiple endocrine neoplasia type 1
Francesca Marini
,
Alberto Falchetti
,
Francesca Monte
,
Silvia Sala
,
Alessia Gozzini
,
Ettore Luzi
,
Maria Brandi
Ollier disease
Caroline Silve
,
Harald Jüppner
Plummer-Vinson syndrome
Gottfried Novacek
Brugada syndrome
Carlo Napolitano
,
Silvia G Priori
Cardiomyopathy, familial dilated
Matthew RG Taylor
,
Elisa Carniel
,
Luisa Mestroni
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
Zbigniew K Wszolek
,
Yoshio Tsuboi
,
Bernardino Ghetti
,
Stuart Pickering-Brown
,
Yasuhiko Baba
,
William P Cheshire
Congenital Cataracts – Facial Dysmorphism – Neuropathy
Luba Kalaydjieva
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
HJ Girschick
,
P Schneider
,
I Haubitz
,
O Hiort
,
H Collmann
,
M Beer
,
YS Shin
,
HW Seyberth
Hypersensitivity pneumonitis
Yves Lacasse
,
Yvon Cormier
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
Griet Van Buggenhout
,
Jean-Pierre Fryns
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Melanie Ehrlich
,
Kelly Jackson
,
Corry Weemaes
Nasopharyngeal carcinoma
Bernadette Brennan
CHARGE syndrome
Kim D Blake
,
Chitra Prasad
Cri du Chat syndrome
Paola Cerruti Mainardi
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