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Berivan Baskin
52
results:
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Online (52)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (27)
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1
P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERM..:
Tesi, Bianca
;
Eriksson, Anna
;
Baskin, Berivan
...
HemaSphere. 7 (2023) S3 - p. e790629d , 2023
Link:
https://doi.org/10.1097/..
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2
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia,..:
Gennarino, Vincenzo A.
;
Palmer, Elizabeth E.
;
McDonell, Laura M.
...
Cell. 172 (2018) 5 - p. 924-936.e11 , 2018
Link:
https://doi.org/10.1016/..
?
3
Complex genomic rearrangement in SPG11 due to a DNA replica..:
Baskin, Berivan
;
Kalia, Lorraine V.
;
Banwell, Brenda L.
..
Movement Disorders. 32 (2017) 12 - p. 1792-1794 , 2017
Link:
https://doi.org/10.1002/..
?
4
Heterozygous De Novo UBTF Gain-of-Function Variant Is Assoc..:
Edvardson, Simon
;
Nicolae, Claudia M.
;
Agrawal, Pankaj B.
...
The American Journal of Human Genetics. 101 (2017) 2 - p. 267-273 , 2017
Link:
https://doi.org/10.1016/..
?
5
De novo mutations in CSNK2A1 are associated with neurodevel..:
Okur, Volkan
;
Cho, Megan T.
;
Henderson, Lindsay
...
Human Genetics. 135 (2016) 7 - p. 699-705 , 2016
Link:
https://doi.org/10.1007/..
?
6
Neuroligin 2 nonsense variant associated with anxiety, auti..:
Parente, Daniel J.
;
Garriga, Caryn
;
Baskin, Berivan
...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 213-216 , 2016
Link:
https://doi.org/10.1002/..
?
7
Complex genomic rearrangements in the dystrophin gene due t..:
Baskin, Berivan
;
Stavropoulos, Dimitri J.
;
Rebeiro, Paige A.
...
Molecular Genetics & Genomic Medicine. 2 (2014) 6 - p. 539-547 , 2014
Link:
https://doi.org/10.1002/..
?
8
Genetic, cell biological, and clinical interrogation of the..:
Molinski, Steven V.
;
Gonska, Tanja
;
Huan, Ling Jun
...
Genetics in Medicine. 16 (2014) 8 - p. 625-632 , 2014
Link:
https://doi.org/10.1038/..
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9
WNT activation by lithium abrogates TP53 mutation associate..:
Zhukova, Nataliya
;
Ramaswamy, Vijay
;
Remke, Marc
...
Acta Neuropathologica Communications. 2 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
?
10
Alternative lengthening of telomeres is enriched in, and im..:
Mangerel, Joshua
;
Price, Aryeh
;
Castelo-Branco, Pedro
...
Acta Neuropathologica. 128 (2014) 6 - p. 853-862 , 2014
Link:
https://doi.org/10.1007/..
?
11
High frequency of copy number variations (CNVs) in the chro..:
Baskin, Berivan
;
Choufani, Sanaa
;
Chen, Yi-an
...
Human Genetics. 133 (2013) 3 - p. 321-330 , 2013
Link:
https://doi.org/10.1007/..
?
12
TMEM43 mutations associated with arrhythmogenic right ventr..:
Baskin, Berivan
;
Skinner, Jon R.
;
Sanatani, Shubhayan
...
Human Genetics. 132 (2013) 11 - p. 1245-1252 , 2013
Link:
https://doi.org/10.1007/..
?
13
Milder phenotype of congenital muscular dystrophy in a nove..:
Al‐Zaidy, Samiah A.
;
Baskin, Berivan
;
Hawkins, Cynthia
...
Muscle & Nerve. 45 (2012) 5 - p. 752-755 , 2012
Link:
https://doi.org/10.1002/..
?
14
Brain abnormalities in patients with Beckwith–Wiedemann syn..:
Gardiner, Kate
;
Chitayat, David
;
Choufani, Sanaa
...
American Journal of Medical Genetics Part A. 158A (2012) 6 - p. 1388-1394 , 2012
Link:
https://doi.org/10.1002/..
?
15
Cribriform neuroepithelial tumour: novel clinicopathologica..:
Ibrahim, George M.
;
Huang, Annie
;
Halliday, William
...
Acta Neuropathologica. 122 (2011) 4 - p. 511-514 , 2011
Link:
https://doi.org/10.1007/..
1-15