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Esmaeeli, Sahar
42
results:
Search for persons
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Online (42)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (24)
Thesis (Online) (1)
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1
Open science in precision medicine for neurodegenerative di..:
Leonard, Hampton L.
;
Nalls, Mike A.
;
Day-Williams, Aaron
...
Nature Reviews Drug Discovery. 23 (2024) 4 - p. 233-234 , 2024
Link:
https://doi.org/10.1038/..
?
2
Functional characterization of a single nucleotide polymorp..:
Stolzenburg, Lindsay R.
;
Esmaeeli, Sahar
;
Kulkarni, Ameya S.
...
PLOS ONE. 18 (2023) 9 - p. e0291029 , 2023
Link:
https://doi.org/10.1371/..
?
3
Systematic single-variant and gene-based association testin..:
Karczewski, Konrad J.
;
Solomonson, Matthew
;
Chao, Katherine R.
...
Cell Genomics. 2 (2022) 9 - p. 100168 , 2022
Link:
https://doi.org/10.1016/..
?
4
De novo mutations in KIF1A cause progressive encephalopathy..:
Esmaeeli Nieh, Sahar
;
Madou, Maura R. Z.
;
Sirajuddin, Minhajuddin
...
Annals of Clinical and Translational Neurology. 2 (2015) 6 - p. 623-635 , 2015
Link:
https://doi.org/10.1002/..
?
5
Copy number variant analysis from exome data in 349 patient..:
Epilepsy Phenome/Genome Project & Epi4K Consortium
;
Allen, Andrew S.
;
Berkovic, Samuel F.
...
Annals of Neurology. 78 (2015) 2 - p. 323-328 , 2015
Link:
https://doi.org/10.1002/..
?
6
Epileptic Encephalopathies: New Genes and New Pathways:
Esmaeeli Nieh, Sahar
;
Sherr, Elliott H.
Neurotherapeutics. 11 (2014) 4 - p. 796-806 , 2014
Link:
https://doi.org/10.1007/..
?
7
Both Rare and De Novo Copy Number Variants Are Prevalent in..:
Sajan, Samin A.
;
Fernandez, Liliana
;
Nieh, Sahar Esmaeeli
...
PLoS Genetics. 9 (2013) 10 - p. e1003823 , 2013
Link:
https://doi.org/10.1371/..
?
8
Fragile X syndrome screening of families with consanguineou..:
Pouya, Ali Reza
;
Abedini, Seyedeh Sedigheh
;
Mansoorian, Neda
...
European Journal of Medical Genetics. 52 (2009) 4 - p. 170-173 , 2009
Link:
https://doi.org/10.1016/..
?
9
Homozygosity mapping in consanguineous families reveals ext..:
Najmabadi, Hossein
;
Motazacker, Mohammad Mahdi
;
Garshasbi, Masoud
...
Human Genetics. 121 (2006) 1 - p. 43-48 , 2006
Link:
https://doi.org/10.1007/..
?
10
SNP array-based homozygosity mapping reveals MCPH1 deletion..:
Garshasbi, Masoud
;
Motazacker, Mohammad Mahdi
;
Kahrizi, Kimia
...
Human Genetics. 118 (2005) 6 - p. 708-715 , 2005
Link:
https://doi.org/10.1007/..
?
11
A second update on mapping the human genetic architecture o..:
Kanai, Masahiro
;
Andrews, Shea J
;
Cordioli, Mattia
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/S41586-023-06355-3. , 2023
Link:
https://investigacion.un..
?
12
A second update on mapping the human genetic architecture o..:
Kanai, Masahiro
;
Andrews, Shea J
;
Cordioli, Mattia
...
info:eu-repo/semantics/altIdentifier/pmid/37674002. , 2023
Link:
https://hdl.handle.net/2..
?
13
Mapping the human genetic architecture of COVID-19:
Niemi, Mari E. K
;
Karjalainen, Juha
;
Liao, Rachel G
...
info:eu-repo/semantics/altIdentifier/pmid/34237774. , 2021
Link:
http://hdl.handle.net/11..
?
14
Mapping the human genetic architecture of COVID-19:
Niemi, Mari E. K
;
Karjalainen, Juha
;
Liao, Rachel G
...
info:eu-repo/semantics/altIdentifier/pmid/34237774. , 2021
Link:
http://hdl.handle.net/23..
?
15
Mapping the human genetic architecture of COVID-19:
Niemi, Mari E. K
;
Karjalainen, Juha
;
Liao, Rachel G
...
info:eu-repo/semantics/altIdentifier/pmid/34237774. , 2021
Link:
http://hdl.handle.net/24..
1-15