E-LIB Suche - Ergebnisse für: Manoochehri, Jamal

1

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation an..:

Manoochehri, Jamal ; Shiri, Amirmasoud ; Khoddam, Somayeh...
European Journal of Medical Genetics. 70 (2024) - p. 104953 , 2024

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

2

ST3GAL3 deficiency with autistic behavior: First descriptio..:

Manoochehri, Jamal ; Khamirani, Hossein Jafari ; Kamal, Neda...
Gene Reports. 35 (2024) - p. 101892 , 2024

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

3

Two siblings with PEX11B-related peroxisome biogenesis diso..:

Khoddam, Somayeh ; Kamal, Neda ; Shiri, Amirmasoud...
European Journal of Medical Genetics. 68 (2024) - p. 104928 , 2024

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

4

EPS8 variant causes deafness, autosomal recessive 102 (DFNB..:

Abbasi, Zahra ; Jafari Khamirani, Hossein ; Tabei, Seyed Mohammad Bagher...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

5

Novel insight into the phenotype of microcephaly 19 in the ..:

Shiri, Amirmasoud ; Jafari Khamirani, Hossein ; Kamal, Neda...
European Journal of Medical Genetics. 66 (2023) 10 - p. 104846 , 2023

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

6

Spastic paraplegia 51: phenotypic spectrum related to novel..:

Manoochehri, Jamal ; Goodarzi, Hamed Reza ; Tabei, Seyed Mohammad Bagher
Journal of Genetics. 101 (2022) 2 - p. , 2022

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

7

A combination of two novels homozygous FCSK variants cause ..:

Manoochehri, Jamal ; Kamal, Neda ; Khamirani, Hossein Jafari...
European Journal of Medical Genetics. 65 (2022) 8 - p. 104535 , 2022

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

8

A novel frameshift pathogenic variant in ST3GAL5 causing sa..:

Manoochehri, Jamal ; Dastgheib, Seyed Alireza ; Khamirani, Hossein Jafari...
Human Genome Variation. 8 (2021) 1 - p. , 2021

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

9

Correction: A novel frameshift pathogenic variant in ST3GAL..:

Manoochehri, Jamal ; Dastgheib, Seyed Alireza ; Khamirani, Hossein Jafari...
Human Genome Variation. 8 (2021) 1 - p. , 2021

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

10

Two novel Warburg micro syndrome 1 cases caused by pathogen..:

Alavi, Omid ; Khamirani, Hossein Jafari ; Zoghi, Sina...
Human Genome Variation. 8 (2021) 1 - p. , 2021

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

11

Direct Electron Transfer of Cytochrome c on ZrO2 Nanopartic..:

Mohseni, Gholamreza ; Negahdary, Masoud ; Malekzadeh, Roya...
International Journal of Electrochemical Science. 7 (2012) 8 - p. 7033-7044 , 2012

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

12

A novel frameshift pathogenic variant in ST3GAL5 causing sa..:

Manoochehri, Jamal ; Dastgheib, Seyed Alireza ; Khamirani, Hossein Jafari...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361121/. , 2021

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

13

EPS8 variant causes deafness, autosomal recessive 102 (DFNB..:

Zahra Abbasi ; Hossein Jafari Khamirani ; Seyed Mohammad Bagher Tabei...
https://doi.org/10.1038/s41439-023-00229-w. , 2023

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

14

A novel frameshift pathogenic variant in ST3GAL5 causing sa..:

Jamal Manoochehri ; Seyed Alireza Dastgheib ; Hossein Jafari Khamirani...
https://doi.org/10.1038/s41439-021-00164-8. , 2021

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

15

Correction: A novel frameshift pathogenic variant in ST3GAL..:

Jamal Manoochehri ; Seyed Alireza Dastgheib ; Hossein Jafari Khamirani...
https://doi.org/10.1038/s41439-021-00174-6. , 2021

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