Intractable & Rare Diseases Research

Intractable & Rare Diseases Research

Published by International Research and Cooperation Association for Bio & Socio-Sciences Advancement

593 registered articles
(updated on July 07, 2020)

Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644

JOURNALS PEER REVIEWED FREE ACCESS ADVANCE PUBLICATION
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2020 Volume 9 Issue 2

A novel frame shift mutation in STIM1 gene causing primary immunodeficiency Dorna Derakhshan, Erfan Taherifard, Ehsan Taherifard, Sarvin Sajedianfard, Ali Derakhshan
Performance of matching methods in studies of rare diseases: a simulation study Irena Cenzer, W. John Boscardin, Karin Berger
Food intolerance/malabsorption may occur in rare diseases Wolfgang J. Schnedl, Manfred Tillich, Michael Schenk, Dietmar Enko, Harald Mangge
Fragile X associated neuropsychiatric disorders in a male without FXTAS Ana María Cabal-Herrera, Wilmar Saldarriaga-Gil, Maria Jimena Salcedo-Arellano, Randi J Hagerman

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Most viewed articles Jun.2020

1

A novel frame shift mutation in STIM1 gene causing primary immunodeficiency

Released: June 15, 2020 | Volume 9 Issue 2 Pages 109-112

Dorna Derakhshan, Erfan Taherifard, Ehsan Taherifard, Sarvin Sajedianfard, Ali Derakhshan
2

Update on cystine stones: current and future concepts in treatment

Released: June 15, 2020 | Volume 9 Issue 2 Pages 71-78

Mohamad Moussa, Athanasios G. Papatsoris, Mohamad Abou Chakra, Yasmin Moussa
3

Food intolerance/malabsorption may occur in rare diseases

Released: June 15, 2020 | Volume 9 Issue 2 Pages 126-129

Wolfgang J. Schnedl, Manfred Tillich, Michael Schenk, Dietmar Enko, Harald Mangge
4

Association between antinuclear antibodies (ANA) patterns and extractable nuclear antigens (ENA) in HEp-2 cells in patients with autoimmune diseases in Riyadh, Saudi Arabia

Released: June 15, 2020 | Volume 9 Issue 2 Pages 89-94

Roua Alsubki, Hajera Tabassum, Hala Alfawaz, Rasha Alaqil, Feda Aljaser, Sabah Ansar, Abdullah Al Jurayyan
5

Increased CD27 expression in the skins and sera of patients with systemic sclerosis

Released: June 15, 2020 | Volume 9 Issue 2 Pages 99-103

Yuka Oshikawa, Takamitsu Makino, Miri Nakayama, Soichiro Sawamura, Katsunari Makino, Ikko Kajihara, Jun Aoi, Shinichi Masuguchi, Satoshi Fukushima, Hironobu Ihn

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