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Dastgheib, Seyed Alireza
175  results:
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1

A Comprehensive Consolidation of Data on the Relationship b..:

Golshan-Tafti, Mohammad ; Dastgheib, Seyed Alireza ; Bahrami, Reza...
Journal of Stomatology, Oral and Maxillofacial Surgery.  , 2024
Link: https://doi.org/10.1016/..
 
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2

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/..
 
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3

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/..
 
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4

Comprehensive data on the relationship between KCNJ11 polym..:

Golshan-Tafti, Mohammad ; Bahrami, Reza ; Dastgheib, Seyed Alireza...
Journal of Diabetes & Metabolic Disorders.  23 (2024)  1 - p. 475-486 , 2024
Link: https://doi.org/10.1007/..
 
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5

A thorough analysis of data on the correlation between COL9..:

Golshan-Tafti, Mohammad ; Dastgheib, Seyed Alireza ; Alijanpour, Kamran...
Journal of Orthopaedic Surgery and Research.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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13

Genotypic and phenotypic spectrum of Myofibrillar Myopathy ..:

Ehsani, Elham ; Khamirani, Hossein Jafari ; Abbasi, Zahra...
European Journal of Medical Genetics.  65 (2022)  8 - p. 104552 , 2022
Link: https://doi.org/10.1016/..
 
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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/..
 
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15

EXOSC9 mutation causes pontocerebellar hypoplasia type 1D (..:

Khamirani, Hossein Jafari ; Sichani, Ali Saber ; Panahandeh, Seyed Mehdi...
Gene Reports.  27 (2022)  - p. 101568 , 2022
Link: https://doi.org/10.1016/..
 
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