Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nandeesh N, Bevinahalli"'
Autor:
Mainak, Bardhan, Kiran, Polavarapu, Nandeesh N, Bevinahalli, Preethish-Kumar, Veeramani, Ram Murthy, Anjanappa, Gautham, Arunachal, Leena, Shingavi, Seena, Vengalil, Saraswati, Nashi, Tanushree, Chawla, Divya, Nagabushana, Dhaarini, Mohan, Rita, Horvath, Ichizo, Nishino, Nalini, Atchayaram
Publikováno v:
Journal of human genetics. 66(8)
Megaconial congenital muscular dystrophy (CMD)(OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are recorded. We present a detailed description of the clinical, histopathological, im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ecdf2aa55cbd532b0efbc6f3ef80975
https://pubmed.ncbi.nlm.nih.gov/33767318
https://pubmed.ncbi.nlm.nih.gov/33767318
Autor:
Mainak Bardhan, Kiran Polavarapu, Nandeesh N. Bevinahalli, Veeramani Preethish-Kumar, Ram Murthy Anjanappa, Gautham Arunachal, Leena Shingavi, Seena Vengalil, Saraswati Nashi, Tanushree Chawla, Divya Nagabushana, Dhaarini Mohan, Rita Horvath, Ichizo Nishino, Atchayaram Nalini
Publikováno v:
Journal of Human Genetics. 66:841-841
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89c67b990f30020ef9915271344846a8
https://doi.org/10.1038/s10038-021-00920-2
https://doi.org/10.1038/s10038-021-00920-2