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Carly Siskind
51
results:
Search for persons
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Format
Online (51)
Mediatypes
Articles (Online) (34)
OpenAccess-fulltext (17)
Sorted by: Relevance
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?
1
Proposed use of entrustable professional activities (EPAs) ..:
Hanson‐Kahn, Andrea
;
Rowe‐Teeter, Courtney
;
Siskind, Carly
.
Journal of Genetic Counseling. 33 (2024) 1 - p. 164-167 , 2024
Link:
https://doi.org/10.1002/..
?
2
Genotype‐phenotype study and expansion of ARL6IP1‐related c..:
Cao, Ye
;
Manning, Melanie
;
Pope, Kathleen
...
Clinical Genetics. 99 (2020) 3 - p. 477-480 , 2020
Link:
https://doi.org/10.1111/..
?
3
Biallelic mutations in SORD cause a common and potentially ..:
Cortese, Andrea
;
Zhu, Yi
;
Rebelo, Adriana P.
...
Nature Genetics. 52 (2020) 5 - p. 473-481 , 2020
Link:
https://doi.org/10.1038/..
?
4
Novel heterozygous truncating titin variants affecting the ..:
Rich, Kelly A.
;
Moscarello, Tia
;
Siskind, Carly
...
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020
Link:
https://doi.org/10.1002/..
?
5
Assessing non-Mendelian inheritance in inherited axonopathi..:
Bis-Brewer, Dana M.
;
Gan-Or, Ziv
;
Sleiman, Patrick
...
Genetics in Medicine. 22 (2020) 12 - p. 2114-2119 , 2020
Link:
https://doi.org/10.1038/..
?
6
Myelin abnormality in Charcot–Marie–Tooth type 4J recapitul..:
Hu, Bo
;
McCollum, Megan
;
Ravi, Vignesh
...
Annals of Neurology. 83 (2018) 4 - p. 756-770 , 2018
Link:
https://doi.org/10.1002/..
?
7
Reduced neurofilament expression in cutaneous nerve fibers ..:
Pisciotta, Chiara
;
Bai, Yunhong
;
Brennan, Kathryn M.
...
Neurology. 85 (2015) 3 - p. 228-234 , 2015
Link:
https://doi.org/10.1212/..
?
8
Exome sequencing identifies a DNAJB6 mutation in a family w..:
Couthouis, Julien
;
Raphael, Alya R.
;
Siskind, Carly
...
Neuromuscular Disorders. 24 (2014) 5 - p. 431-435 , 2014
Link:
https://doi.org/10.1016/..
?
9
A Novel Form of Nemaline Myopathy Caused by an In-Frame Del..:
Sakamuri, Sarada
;
Siskind, Carly
;
Watson, Karolina
...
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
10
Muscular Dystrophy Association U.S. Neuromuscular Disease R..:
Wolff, Jodi
;
Dalton, Joline
;
Cwik, Valerie
...
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
11
Congenital muscular dystrophy and generalized epilepsy caus..:
Raphael, Alya R.
;
Couthouis, Julien
;
Sakamuri, Sarada
...
Brain Research. 1575 (2014) - p. 66-71 , 2014
Link:
https://doi.org/10.1016/..
?
12
Exome sequencing allows for rapid gene identification in a ..:
Montenegro, Gladys
;
Powell, Eric
;
Huang, Jia
...
Annals of Neurology. 69 (2011) 3 - p. 464-470 , 2011
Link:
https://doi.org/10.1002/..
?
13
Persistent CNS dysfunction in a boy with CMT1X:
Siskind, Carly
;
Feely, Shawna M.E.
;
Bernes, Saunder
..
Journal of the Neurological Sciences. 279 (2009) 1-2 - p. 109-113 , 2009
Link:
https://doi.org/10.1016/..
?
14
Validation of the parent‐proxy pediatric Charcot‐Marie‐Toot..:
Wu, Tong Tong
;
Finkel, Richard S.
;
Siskind, Carly E.
...
Journal of the Peripheral Nervous System. 28 (2023) 2 - p. 237-251 , 2023
Link:
https://doi.org/10.1111/..
?
15
Validation of the parent‐proxy version of the pediatric Cha..:
Wu, Tong Tong
;
Finkel, Richard S.
;
Siskind, Carly E.
...
Journal of the Peripheral Nervous System. 28 (2023) 3 - p. 382-389 , 2023
Link:
https://doi.org/10.1111/..
1-15