Intractable & Rare Diseases Research
Latest Publications

TOTAL DOCUMENTS

448
(FIVE YEARS 41)

H-INDEX

20
(FIVE YEARS 0)

Published By International Research And Cooperation Association For Bio & Socio-Sciences Advancement

2186-361x, 2186-3644
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment

2021 ◽  
Vol 10 (1) ◽  
pp. 31-36
Author(s):  
Smita Hegde ◽  
Rajat Hegde ◽  
Suyamindra S Kulkarni ◽  
Kusal K Das ◽  
Pramod B Gai ◽  
...  
Keyword(s):  
Gap Junction ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Molecular Alteration ◽  
Sensorineural Hearing Impairment ◽  
Beta 2 ◽  
I Gene

scholarly journals Off-label medication use in rare pediatric diseases in the United States

2021 ◽  
Author(s):  
Albert Fung ◽  
Xiaomeng Yue ◽  
Patricia R. Wigle ◽  
Jeff J. Guo
Keyword(s):  
United States ◽  
Medication Use ◽  
The United States ◽  
Off Label ◽  
Pediatric Diseases

scholarly journals A review of Alström syndrome: a rare monogenic ciliopathy

2021 ◽  
Author(s):  
Avijoy Roy Choudhury ◽  
Ifeanyi Munonye ◽  
Kevin Paul Sanu ◽  
Nipa Islam ◽  
Cecilia Gadaga
Keyword(s):  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

2021 ◽  
Author(s):  
Anna Skorczyk-Werner ◽  
Dorota Raczynska ◽  
Anna Wawrocka ◽  
Dinara Zholdybayeva ◽  
Nurgul Yakhiyayeva ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Optic Atrophy ◽  
Eye Diseases ◽  
Next Generation ◽  
Gyrate Atrophy ◽  
Generation Sequencing

scholarly journals Immunopathogenic mechanisms of rheumatoid arthritis and the use of anti-inflammatory drugs

2021 ◽  
Author(s):  
Ling Zhang ◽  
Yihang Zhang ◽  
Jihong Pan
Keyword(s):  
Rheumatoid Arthritis ◽  
Inflammatory Drugs ◽  
Anti Inflammatory

scholarly journals One-year follow-up of thyroid function in 23 infants with Prader-Willi syndrome at a single center in China

2021 ◽  
Author(s):  
Min Yang ◽  
Jun Ye ◽  
Lianshu Han ◽  
Wenjuan Qiu ◽  
Yongguo Yu ◽  
...  
Keyword(s):  
Thyroid Function ◽  
Prader Willi Syndrome ◽  
Single Center ◽  
One Year

scholarly journals Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study

2021 ◽  
Author(s):  
Steeve Jouini ◽  
Olivier Milleron ◽  
Ludivine Eliahou ◽  
Guillaume Jondeau ◽  
Damien Vitiello
Keyword(s):  
Training Program ◽  
Marfan Syndrome ◽  
Controlled Study ◽  
Home Based

scholarly journals Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients

2021 ◽  
Author(s):  
Suci Widhiati ◽  
Retno Danarti ◽  
Niken Trisnowati ◽  
Dewajani Purnomosari ◽  
Tri Wibawa ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Novel Mutations ◽  
Whole Exome

scholarly journals Rituximab use for refractory anti-HMGCR immune-mediated necrotizing myopathy: A case report

2021 ◽  
Author(s):  
Sonia Gupta ◽  
Amandeep Rakhra ◽  
Vinay Thallapally ◽  
Joseph Nahas
Keyword(s):  
Case Report ◽  
Necrotizing Myopathy ◽  
Immune Mediated

scholarly journals Orphan drugs in different countries and development of new drugs to treat biliary tract cancer

2021 ◽  
Author(s):  
Haihong Cheng ◽  
Di Zhou ◽  
Shouhua Wang ◽  
Jun Ding ◽  
Fei Ma
Keyword(s):  
Biliary Tract ◽  
Biliary Tract Cancer ◽  
Orphan Drugs ◽  
New Drugs ◽  
Tract Cancer
Load More ...
Sign in / Sign up

Export Citation Format

Share Document