Intractable & Rare Diseases Research
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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 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 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
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