I agree that this site is using cookies. You can find further informations here.
X
Ariana Kariminejad
175  results:
Search for persons X
?
1

P483: A comprehensive study of spinal muscular atrophy test..:

Khanbazi, Ali ; Beheshtian, Maryam ; Azad, Maryam...
Genetics in Medicine Open.  2 (2024)  - p. 101382 , 2024
Link: https://doi.org/10.1016/..
 
?
2

COLQ-Congenital myasthenic syndrome in an Iranian cohort: t..:

Hesami, Omid ; Ramezani, Mahtab ; Ghasemi, Aida...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
3

Congenital Disseminated Pyogenic Granuloma: A Case With Num..:

Ghaderi-Sohi, Siavash ; Moradi, Behnaz ; Shirazi, Mahboobeh...
Maternal-Fetal Medicine.  6 (2024)  3 - p. 190-195 , 2024
Link: https://doi.org/10.1097/..
 
?
4

Neutral lipid storage disease with myopathy: clinicopatholo..:

Shahriyari, Hamed ; Ramezani, Mahtab ; Nilipour, Yalda...
Neuromuscular Disorders.  35 (2024)  - p. 19-24 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Clinical application of next generation sequencing for Mend..:

Abolhassani, Ayda ; Fattahi, Zohreh ; Beheshtian, Maryam...
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
?
6

DOK7 congenital myasthenic syndrome: case series and review..:

Ziaadini, Bentolhoda ; Ghaderi Yazdi, Bardyia ; Dirandeh, Elham...
BMC Neurology.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
7

P604: Diagnostic utility of NGS testing in a highly consang..:

Abolhassani, Ayda ; Fattahi, Zohreh ; Beheshtian, Maryam...
Genetics in Medicine Open.  2 (2024)  - p. 101510 , 2024
Link: https://doi.org/10.1016/..
 
?
8

Bi‐allelic loss of function variant in the NRCAM gene is as..:

Elahi, Zohreh ; Soveyzi, Mohamad ; Nafissi, Shahriar...
Molecular Genetics & Genomic Medicine.  11 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
?
9

The prevalence and phenotypic range associated with biallel..:

Pagnamenta, Alistair T. ; Belles, Rebecca S. ; Salbert, Bonnie Anne...
Clinical Genetics.  104 (2023)  1 - p. 121-126 , 2023
Link: https://doi.org/10.1111/..
 
?
10

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
Brain.  146 (2023)  8 - p. 3273-3288 , 2023
Link: https://doi.org/10.1093/..
 
?
11

5p13 microduplication in a malformed fetus and his unaffect..:

Kariminejad, Ariana ; Ghaderi‐Sohi, Siavash ; Gholami, Soheila...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 370-377 , 2022
Link: https://doi.org/10.1002/..
 
?
12

RABENOSYN separation-of-function mutations uncouple endosom..:

Paul, Franziska ; Ng, Calista ; Mohamad Sahari, Umar Bin...
Human Molecular Genetics.  31 (2022)  21 - p. 3729-3740 , 2022
Link: https://doi.org/10.1093/..
 
?
13

Anticipation Can Be More Common in Hereditary Spastic Parap..:

Hashemi, Seyyed-Saleh ; Hajati, Reza ; Davarzani, Atefeh...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  49 (2021)  5 - p. 651-661 , 2021
Link: https://doi.org/10.1017/..
 
?
14

Kindler epidermolysis bullosa-like skin phenotype and downr..:

Vahidnezhad, Hassan ; Youssefian, Leila ; Saeidian, Amir Hossein...
Matrix Biology.  99 (2021)  - p. 43-57 , 2021
Link: https://doi.org/10.1016/..
 
?
15

Identifying the causes of recurrent pregnancy loss in consa..:

Najafi, Kimia ; Mehrjoo, Zohreh ; Ardalani, Fariba...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
1-15