Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jillian Lipsett"'
Autor:
Hamish Scott, Alicia Byrne, Peer Arts, Thuong Ha, Karin Kassahn, Lynn Pais, Anne O’Donnell-Luria, Milena Babic, Mahalia Frank, Jinghhua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, Genomic Autopsy Study Research Network, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jillian Lipsett, Nick Manton, T Khong, Lynette Moore, Jan Liebelt, Andreas Schreiber, Sarah King-Smith, Tristan Hardy, Matilda Jackson, Christopher Barnett
Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6a5367579d77a119766f75ac5540e62
https://doi.org/10.21203/rs.3.rs-1215526/v1
https://doi.org/10.21203/rs.3.rs-1215526/v1
Autor:
Alicia B. Byrne, Peer Arts, Christopher N. Hahn, Steven W. Polyak, Dylan A. Mordaunt, Nicholas J.C. Smith, Hamish S. Scott, Andreas W. Schreiber, Janice M. Fletcher, Drago Bratkovic, Grant W. Booker, Jillian Lipsett, Karin S. Kassahn, Jinghua Feng
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-8 (2019)
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-8 (2019)
We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole exome sequencing, compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e6d726c733933d2fb130ecaabdc58f2
https://hdl.handle.net/11541.2/140918
https://hdl.handle.net/11541.2/140918
Autor:
Byrne, Alicia B., Arts, Peer, Polyak, Steven W., Feng, Jinghua, Schreiber, Andreas W., Kassahn, Karin S., Hahn, Christopher N., Mordaunt, Dylan A., Fletcher, Janice M., Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W., Smith, Nicholas J., Scott, Hamish S.
Publikováno v:
NPJ Genomic Medicine; 11/14/2019, Vol. 4 Issue 1, pN.PAG-N.PAG, 1p
