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Jafari Khamirani, Hossein
41
results:
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Online (41)
Mediatypes
Articles (Online) (28)
OpenAccess-fulltext (13)
Sorted by: Relevance
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?
1
Novel insight into FCSK‐congenital disorder of glycosylatio..:
Fazelzadeh Haghighi, Maryam
;
Jafari Khamirani, Hossein
;
Fallahi, Jafar
...
Molecular Genetics & Genomic Medicine. 12 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1002/..
?
2
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/..
?
3
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/..
?
4
Novel insight into the ectodermal dysplasia 11A: Splicing v..:
Fazelzadeh Haghighi, Negin
;
Kamal, Neda
;
Jafari Khamirani, Hossein
...
The Journal of Dermatology. 50 (2023) 10 - p. 1357-1362 , 2023
Link:
https://doi.org/10.1111/..
?
5
NRXN3 mutations cause developmental delay, movement disorde..:
Kamal, Neda
;
Jafari Khamirani, Hossein
;
Dara, Mahintaj
.
Gene. 867 (2023) - p. 147347 , 2023
Link:
https://doi.org/10.1016/..
?
6
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/..
?
7
The third patient of ACACA-related acetyl-CoA carboxylase d..:
Shafieipour, Negin
;
Jafari Khamirani, Hossein
;
Kamal, Neda
...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104707 , 2023
Link:
https://doi.org/10.1016/..
?
8
Intronic OTOF mutation causes an atypical splicing defect r..:
Mohammadi, Sanaz
;
Jafari Khamirani, Hossein
;
Zoghi, Sina
...
Journal of Genetics. 102 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1007/..
?
9
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/..
?
10
A novel nonsense variant in the ATL3 gene is associated wit..:
Mohammadi, Sanaz
;
Jafari Khamirani, Hossein
;
Baneshi, Maryam
...
Annals of Human Genetics. 87 (2023) 4 - p. 147-157 , 2023
Link:
https://doi.org/10.1111/..
?
11
A pathogenic variant of TULP3 causes renal and hepatic fibr..:
Jafari Khamirani, Hossein
;
Palicharla, Vivek Reddy
;
Dastgheib, Seyed Alireza
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
A single-amino-acid in-frame deletion in CYP17A1 results in..:
Habib, Ashkan
;
Shojazadeh, Alireza
;
Molayemat, Mohadeseh
...
Human Genome Variation. 8 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
13
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/..
?
14
Phenotypic spectrum of autosomal recessive Keratitis-Ichthy..:
Faghihi, Fatemeh
;
Khamirani, Hossein Jafari
;
Zoghi, Sina
...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104449 , 2022
Link:
https://doi.org/10.1016/..
?
15
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/..
1-15