Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Diane Cairns"'
Publikováno v:
neurogenetics. 21:305-308
Pathogenic variants in the nonimprinted in Prader-Willi/Angelman syndrome (NIPA1) gene typically present with pure hereditary spastic paraplegia (HSP) but complex cases are described. We present a patient with childhood idiopathic generalised epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f21ddb0a20781fc62dada57edfe18972
https://doi.org/10.1007/s10048-020-00619-0
https://doi.org/10.1007/s10048-020-00619-0
Publikováno v:
Familial Cancer. 15:57-61
Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterised by gastrointestinal polyposis and mucocutaneous pigmentation. Mutations in STK11, a serine-threonine protein kinase, have been associated with PJS in u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7450cec6224b42d7351b95e25d804b1b
https://doi.org/10.1007/s10689-015-9839-3
https://doi.org/10.1007/s10689-015-9839-3
Publikováno v:
Neurology India. 65:1141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b66a6b8c03a7de23900c7047b95442f
https://doi.org/10.4103/neuroindia.ni_96_17
https://doi.org/10.4103/neuroindia.ni_96_17
Autor:
Diane Cairns, Suzanne Hawkins, Robert M. Kliegman, Jill E. Baley, Lynn T. Singer, Toyoko S. Yamashita
Publikováno v:
The Journal of Pediatrics. 124:765-771
This study sought to determine whether very low birth weight (VLBW) infants (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f29cc71ab9e44fbf7f80e9c9754c53
https://doi.org/10.1016/s0022-3476(05)81372-1
https://doi.org/10.1016/s0022-3476(05)81372-1