Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Divya Sirdeshpande"'
Autor:
Sunetra Sase, Akshata A Almad, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika LF Holzbaur, Steven S Scherer, Adeline Vanderver
Publikováno v:
eLife, Vol 9 (2020)
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have d
Externí odkaz:
https://doaj.org/article/d63c220dcb804fd689ffcb48f6975f30
Autor:
C Alexander Boecker, Sunetra Sase, Erika L.F. Holzbaur, Divya Sirdeshpande, Jian J. Li, Akshilkumar Patel, Heta Patel, Quasar S Padiath, Julian Curiel, Pedro Guedes-Dias, Tara McCaffrey, Judy S. Liu, Akshata Almad, Steven S. Scherer, Asako Takanohashi, Adeline Vanderver
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2473c3e6ca616ca338786df5ca312e
http://europepmc.org/articles/PMC7255805
http://europepmc.org/articles/PMC7255805
Autor:
Adeline Vanderver, Tara McCaffrey, Jian J. Li, Sunetra Sase, Heta Patel, Julian Curiel, Erika L.F. Holzbaur, Divya Sirdeshpande, C Alexander Boecker, Akshilkumar Patel, Quasar S Padiath, Judy S. Liu, Asako Takanohashi, Steven S. Scherer, Pedro Guedes-Dias, Akshata Almad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df5f0d907c123d05e4e404e8bc8f789a
https://doi.org/10.7554/elife.52986.sa2
https://doi.org/10.7554/elife.52986.sa2
