E-LIB Suche - Ergebnisse für: Shafeghati, Yousef

1

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutatio..:

Alamatsaz, Marzieh ; Jalalypour, Farzaneh ; Hashemi, Motahare‐Sadat...
Journal of Cellular Biochemistry. 122 (2021) 9 - p. 1229-1238 , 2021

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

2

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes i..:

Colombo, Elisa Adele ; Mutlu-Albayrak, Hatice ; Shafeghati, Yousef...
Frontiers in Pediatrics. 7 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

3

Erratum: Mild reduction of plasmalogens causes rhizomelic c..:

Noguchi, Masafumi ; Honsho, Masanori ; Abe, Yuichi...
Journal of Human Genetics. 59 (2014) 7 - p. 417-417 , 2014

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

4

Mild reduction of plasmalogens causes rhizomelic chondrodys..:

Noguchi, Masafumi ; Honsho, Masanori ; Abe, Yuichi...
Journal of Human Genetics. 59 (2014) 7 - p. 387-392 , 2014

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

5

Identification of a novel missense mutation of PEX7 gene in..:

Mohamadynejad, Parisa ; Ghaedi, Kamran ; Shafeghati, Yousef...
Gene. 518 (2013) 2 - p. 461-466 , 2013

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

6

Effects of Miglustat on Stabilization of Neurological Disor..:

Karimzadeh, Parvaneh ; Tonekaboni, Seyed Hassan ; Ashrafi, Mahmoud Reza...
Journal of Child Neurology. 28 (2012) 12 - p. 1599-1606 , 2012

Link: https://doi.org/10.1177/..

7

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia s..:

Shafeghati, Yousef ; Kahrizi, Kimia ; Najmabadi, Hossein...
European Journal of Pediatrics. 169 (2010) 12 - p. 1535-1539 , 2010

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

8

Fraser syndrome due to homozygosity for a splice site mutat..:

Shafeghati, Yousef ; Kniepert, Andrea ; Vakili, Ghazal.
American Journal of Medical Genetics Part A. 146A (2008) 4 - p. 529-531 , 2008

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

9

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/..

10

Whole-Exome Sequencing Identifies Three Candidate Homozygou..:

Farajzadeh Valilou, Saeed ; Alavi, Afagh ; Pashaei, Mahdiyeh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325133/. , 2020

Link: http://www.ncbi.nlm.nih...

11

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes i..:

Colombo, Elisa Adele ; Mutlu-Albayrak, Hatice ; Shafeghati, Yousef...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546804/. , 2019

Link: http://www.ncbi.nlm.nih...

12

Identification of CANT1 Mutations in Desbuquois Dysplasia:

Ausems, Margreet G. E. M ; Superti-Furga, Andrea ; Shafeghati, Yousef...
32145205-105c-4511-81e7-6e93a8da4c01. , 2009

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

13

Identification of CANT1 Mutations in Desbuquois Dysplasia:

Huber, Céline ; Oulès, Bénédicte ; Bertoli, Marta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775828. , 2009

Link: http://www.ncbi.nlm.nih...

14

Identification Of Cant1 Mutations In Desbuquois Dysplasia:

Huber, Celine ; Oules, Benedicte ; Bertoli, Marta...
10.1016/j.ajhg.2009.10.001. , 2009

Link: http://hdl.handle.net/11..

15

A Molecular and Clinical Study of Larsen Syndrome Caused by..:

Bicknell, Louise S ; Farrington-Rock, Claire ; Shafeghati, Yousef...
10.1136/jmg.2006.043687. , 2007

Link: http://hdl.handle.net/11..