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Purcarin, Gabriela
14
results:
Search for persons
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Format
Online (14)
Mediatypes
Articles (Online) (7)
OpenAccess-fulltext (7)
Sorted by: Relevance
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?
1
Exploring the phenotypic spectrum and osteopenia mechanisms..:
Beauregard-Lacroix, Éliane
;
Scott, Alexandra
;
Nguyen, Thi Tuyet Mai
...
Genetics in Medicine Open. 2 (2024) - p. 101837 , 2024
Link:
https://doi.org/10.1016/..
?
2
Pediatric Ischemic Stroke Receiving IV tPA: a Case Series (..:
Astani, Sama
;
Jacob, Joel
;
Purcarin, Gabriela
..
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
?
3
Spatially clustering de novo variants in CYFIP2, encoding t..:
Deciphering Developmental Disorders (DDD) Study
;
Zweier, Markus
;
Begemann, Anaïs
...
European Journal of Human Genetics. 27 (2019) 5 - p. 747-759 , 2019
Link:
https://doi.org/10.1038/..
?
4
The first case of deafness‐dystonia syndrome due to compoun..:
Shakir, Aamina
;
Wadley, Alexandrea F.
;
Purcarin, Gabriela
.
Clinical Case Reports. 6 (2018) 9 - p. 1815-1817 , 2018
Link:
https://doi.org/10.1002/..
?
5
A novel NAA10 variant with impaired acetyltransferase activ..:
Støve, Svein Isungset
;
Blenski, Marina
;
Stray-Pedersen, Asbjørg
...
European Journal of Human Genetics. 26 (2018) 9 - p. 1294-1305 , 2018
Link:
https://doi.org/10.1038/..
?
6
Experience in the use of clobazam in the treatment of Lenno..:
Purcarin, Gabriela
;
Ng, Yu-Tze
Therapeutic Advances in Neurological Disorders. 7 (2014) 3 - p. 169-176 , 2014
Link:
https://doi.org/10.1177/..
?
7
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:
Lalani, Seema R.
;
Zhang, Jing
;
Schaaf, Christian P.
...
The American Journal of Human Genetics. 95 (2014) 5 - p. 579-583 , 2014
Link:
https://doi.org/10.1016/..
?
8
Spatially clustering de novo variants in CYFIP2, encoding t..:
Zweier, Markus
;
Begemann, Anaïs
;
McWalter, Kirsty
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461771/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
9
The first case of deafness‐dystonia syndrome due to compoun..:
Shakir, Aamina
;
Wadley, Alexandrea F
;
Purcarin, Gabriela
.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
10
A novel NAA10 variant with impaired acetyltransferase activ..:
Støve, Svein Isungset
;
Blenski, Marina
;
Stray-Pedersen, Asbjørg
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117304/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
11
High Rate of Recurrent De Novo Mutations in Developmental a..:
Hamdan, Fadi F
;
Myers, Candace T
;
Cossette, Patrick
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604/. , 2017
Link:
http://www.ncbi.nlm.nih...
?
12
Experience in the use of clobazam in the treatment of Lenno..:
Purcarin, Gabriela
;
Ng, Yu-Tze
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014
Link:
http://www.ncbi.nlm.nih...
?
13
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:
Lalani, Seema R
;
Zhang, Jing
;
Schaaf, Christian P
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225583/. , 2014
Link:
http://www.ncbi.nlm.nih...
?
14
Experience in the use of clobazam in the treatment of Lenno..:
Gabriela Purcarin
;
Yu-Tze Ng
https://doi.org/10.1177/1756285614521314. , 2014
Link:
https://doi.org/10.1177/..
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