Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Paciorkowski, Alex R.
107  Ergebnisse:
Personensuche X
?
1

Clinical and functional consequences of GRIA variants in pa..:

XiangWei, Wenshu ; Perszyk, Riley E. ; Liu, Nana...
Cellular and Molecular Life Sciences.  80 (2023)  11 - p. , 2023
Link: https://doi.org/10.1007/..
 
?
2

Mendelian etiologies identified with whole exome sequencing..:

Chopra, Maya ; Gable, Dustin L. ; Love‐Nichols, Jamie...
Annals of Clinical and Translational Neurology.  9 (2022)  2 - p. 193-205 , 2022
Link: https://doi.org/10.1002/..
 
?
3

A diagnostic confidence scheme for CLN3 disease:

Masten, Margaux C. ; Corre, Camille ; Paciorkowski, Alex R....
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1453-1462 , 2021
Link: https://doi.org/10.1002/..
 
?
4

BioVR: a platform for virtual reality assisted biological d..:

Zhang, Jimmy F. ; Paciorkowski, Alex R. ; Craig, Paul A..
BMC Bioinformatics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
?
5

Ode to the humble Southern blot in the era of exomes:

Paciorkowski, Alex R.
Neurology Clinical Practice.  8 (2018)  1 - p. 4-5 , 2018
Link: https://doi.org/10.1212/..
 
?
6

Phenotypes, genotypes, and the management of paroxysmal mov..:

Silveira‐Moriyama, Laura ; Kovac, Stjepana ; Kurian, Manju A...
Developmental Medicine & Child Neurology.  60 (2018)  6 - p. 559-565 , 2018
Link: https://doi.org/10.1111/..
 
?
7

India Allele Finder: a web-based annotation tool for identi..:

Zhang, Jimmy F. ; James, Francis ; Shukla, Anju..
BMC Research Notes.  10 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
?
8

Expanding the neurodevelopmental phenotype ofPURAsyndrome:

Lee, Bo Hoon ; Reijnders, Margot R. F. ; Abubakare, Oluwatobi...
American Journal of Medical Genetics Part A.  176 (2017)  1 - p. 56-67 , 2017
Link: https://doi.org/10.1002/..
 
?
9

CEDNIK: Phenotypic and Molecular Characterization of an Add..:

Hsu, Tina ; Coughlin, Carrie C. ; Monaghan, Kristin G....
Child Neurology Open.  4 (2017)  - p. 2329048X1773321 , 2017
Link: https://doi.org/10.1177/..
 
?
10

PLXNA1 developmental encephalopathy with syndromic features..:

Park, Kaylee ; Seltzer, Laurie E. ; Tuttle, Emily..
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1951-1954 , 2017
Link: https://doi.org/10.1002/..
 
?
11

Developing a novel epileptic discharge localization algorit..:

Traitruengsakul, Supachan ; Seltzer, Laurie E. ; Paciorkowski, Alex R..
Medical & Biological Engineering & Computing.  55 (2017)  9 - p. 1659-1668 , 2017
Link: https://doi.org/10.1007/..
 
?
12

Genetics and genotype–phenotype correlations in early onset..:

Olson, Heather E. ; Kelly, McKenna ; LaCoursiere, Christopher M....
Annals of Neurology.  81 (2017)  3 - p. 419-429 , 2017
Link: https://doi.org/10.1002/..
 
?
13

Epilepsy-causing sequence variations in SIK1 disrupt synapt..:

Pröschel, Christoph ; Hansen, Jeanne N ; Ali, Adil...
European Journal of Human Genetics.  25 (2016)  2 - p. 216-221 , 2016
Link: https://doi.org/10.1038/..
 
?
14

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A N..:

Ma, Mandy ; Adams, Heather R. ; Seltzer, Laurie E...
The Journal of Pediatrics.  178 (2016)  - p. 233-240.e10 , 2016
Link: https://doi.org/10.1016/..
 
?
15

Autism spectrum disorder and epilepsy: Disorders with a sha..:

Lee, Bo Hoon ; Smith, Tristram ; Paciorkowski, Alex R.
Epilepsy & Behavior.  47 (2015)  - p. 191-201 , 2015
Link: https://doi.org/10.1016/..
 
1-15