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Esmaeeli Nieh, Sahar
28  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

BOD1 Is Required for Cognitive Function in Humans and Droso..:

Esmaeeli-Nieh, Sahar ; Fenckova, Michaela ; Porter, Iain M....
PLOS Genetics.  12 (2016)  5 - p. e1006022 , 2016
Link: https://doi.org/10.1371/..
 
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9

De novo mutations in KIF1A cause progressive encephalopathy..:

Esmaeeli Nieh, Sahar ; Madou, Maura R Z ; Sirajuddin, Minhajuddin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479523/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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10

Copy number variant analysis from exome data in 349 patient..:

Allen, Andrew S ; Berkovic, Samuel F ; Coe, Bradley P...
qt3438h024.  , 2015
Link: https://escholarship.org..
 
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11

Epileptic Encephalopathies: New Genes and New Pathways:

Esmaeeli Nieh, Sahar ; Sherr, Elliott H
qt4jz291hm.  , 2014
Link: https://escholarship.org..
 
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12

Epileptic Encephalopathies: New Genes and New Pathways:

Esmaeeli Nieh, Sahar ; Sherr, Elliott H
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391391/.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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13

Identification and functional characterization of a genetic..:

Esmaeeli-Nieh, Sahar , 2011
Link: http://nbn-resolving.de/..
 
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14

Deep sequencing reveals 50 novel genes for recessive cognit..:

Najmabadi, Hossein ; Hu, Hao ; Garshasbi, Masoud...
Nature.  478 (2011)  7367 - p. 57-63 , 2011
Link: https://doi.org/10.1038/..
 
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15

De novo mutations in KIF1A cause progressive encephalopathy..:

Nieh, Sahar Esmaeeli ; Madou, Maura RZ ; Sirajuddin, Minhajuddin...
qt7dq598zx.  , 2015
Link: https://escholarship.org..
 
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