E-LIB Suche - Ergebnisse für: Berivan Baskin

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/..

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/..

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/..