E-LIB Suche - Ergebnisse für: Firouzabadi, Saghar Ghasemi

1

Bi-allelic variants inCHKAcause a neurodevelopmental disord..:

Klöckner, Chiara ; Fernández-Murray, J Pedro ; Tavasoli, Mahtab...
Brain. 145 (2022) 6 - p. 1916-1923 , 2022

Link: https://doi.org/10.1093/..

2

ANXA1 with Anti‐Inflammatory Properties Might Contribute to..:

Darvish, Hossein ; Azcona, Luis J. ; Taghavi, Shaghayegh...
Annals of Neurology. 90 (2021) 2 - p. 319-323 , 2021

Link: https://doi.org/10.1002/..

3

Biallelic truncation variants in ATP9A are associated with ..:

Mattioli, Francesca ; Darvish, Hossein ; Paracha, Sohail Aziz...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

4

A Clinical and Molecular Genetic Study of 50 Families with ..:

Taghavi, Shaghayegh ; Chaouni, Rita ; Tafakhori, Abbas...
Molecular Neurobiology. 55 (2017) 4 - p. 3477-3489 , 2017

Link: https://doi.org/10.1007/..

5

Copy Number Variants in Patients with Autism and Additional..:

Firouzabadi, Saghar Ghasemi ; Kariminejad, Roxana ; Vameghi, Roshanak...
Molecular Neurobiology. 54 (2016) 9 - p. 7019-7027 , 2016

Link: https://doi.org/10.1007/..

6

Detection of copy number changes in genes associated with P..:

Darvish, Hossein ; Movafagh, Abolfazl ; Omrani, Mir Davood...
Neuroscience Letters. 551 (2013) - p. 75-78 , 2013

Link: https://doi.org/10.1016/..

7

Biased Homozygous Haplotypes Across the Human Caveolin 1 Up..:

Darvish, Hossein ; Heidari, Abolfazl ; Hosseinkhani, Saman...
Journal of Molecular Neuroscience. 51 (2013) 2 - p. 389-393 , 2013

Link: https://doi.org/10.1007/..

8

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/..

9

M-banding characterization of a 16p11.2p13.1 tandem duplica..:

Behjati, Farkhondeh ; Shafaghati, Yousef ; Firouzabadi, Saghar Ghasemi...
European Journal of Medical Genetics. 51 (2008) 6 - p. 608-614 , 2008

Link: https://doi.org/10.1016/..

10

Interstitial deletion of the short arm of chromosome 10 del..:

Behjati, Farkhondeh ; Shafeghati, Yousef ; Kahrizi, Kimia...
American Journal of Medical Genetics Part A. 146A (2008) 24 - p. 3223-3226 , 2008

Link: https://doi.org/10.1002/..

11

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/..

12

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/..

13

Novel splicing variant and gonadal mosaicism in DYRK1A gene..:

Agha Gholizadeh, Mehdi ; Behjati, Farkhondeh ; Ghasemi Firouzabadi, Saghar...
Neurogenetics. , 2024

Link: https://doi.org/10.1007/..

14

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 5 - p. 1422-1434 , 2021

Link: https://doi.org/10.1093/..

15

Erratum to: Biallelic variants in HPDL cause pure and compl..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 8 - p. e70-e70 , 2021

Link: https://doi.org/10.1093/..