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ASHRAFI, Mahmoud Reza
533  Ergebnisse:
Personensuche X
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1

Distinct neurological phenotypes associated with biallelic ..:

Tasharrofi, Behnoosh ; Najafi, Ali ; Pourbakhtyaran, Elham...
Molecular Biology Reports.  51 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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2

The genetic basis of early-onset hereditary ataxia in Iran:..:

Mahdieh, Nejat ; Heidari, Morteza ; Rezaei, Zahra...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

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/..
 
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4

A Comprehensive Overview of NF1 Mutations in Iranian Patien..:

Savad, Shahram ; Modarressi, Mohammad-Hossein ; Younesi, Sarang...
NeuroMolecular Medicine.  26 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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5

A comprehensive study of mutation and phenotypic heterogene..:

Hosseinpour, Sareh ; Razmara, Ehsan ; Heidari, Morteza...
Brain and Development.  46 (2024)  4 - p. 167-179 , 2024
Link: https://doi.org/10.1016/..
 
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6

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/..
 
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7

An overview of early-onset cerebellar ataxia: a practical g..:

Hosseinpour, Sareh ; Bemanalizadeh, Maryam ; Mohammadi, Pouria..
Acta Neurologica Belgica.  , 2024
Link: https://doi.org/10.1007/..
 
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8

A comparative study on prophylactic efficacy of cinnarizine..:

Olfat, Mehrnaz ; Hosseinpour, Sareh ; Masoumi, Safdar...
Cephalalgia.  44 (2024)  4 - p. , 2024
Link: https://doi.org/10.1177/..
 
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9

Novel homozygous frameshift variant in the ATCAY gene in an..:

Siavashani, Elham Salehi ; Ashrafi, Mahmoud Reza ; Ghabeli, Homa..
BMC Medical Genomics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

Persistent basal ganglia involvement in aminoacylase-1 defi..:

Mohammadi, Mohammad Farid ; Dehghani, Ali ; Zarabadi, Kiana...
Irish Journal of Medical Science (1971 -).  193 (2023)  1 - p. 449-456 , 2023
Link: https://doi.org/10.1007/..
 
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11

Phenotype and Genotype Heterogeneity of PLA2G6-associated N..:

Tavasoli, Ali Reza ; Dehnavi, Ali Zare ; Bemanalizadeh, Maryam...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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12

A comprehensive overview of SMN and NAIP copy numbers in Ir..:

Savad, Shahram ; Ashrafi, Mahmoud Reza ; Samadaian, Niusha...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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13

Phenotype and genotype heterogeneity of PLA2G6-associated n..:

Dehnavi, Ali Zare ; Bemanalizadeh, Maryam ; Kahani, Seyyed Mohammad...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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14

Non-invasive Electrical Source Imaging for Localizing Epile..:

Ahmadzadeh Irandoost, Soheil ; Badv, Reza Shervin ; Oghabian, Mohammad Ali...
Iranian Journal of Pediatrics.  33 (2023)  2 - p. , 2023
Link: https://doi.org/10.5812/..
 
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15

Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:

Beijer, Danique ; Fogel, Brent L. ; Beltran, Sergi...
The Cerebellum.  23 (2023)  2 - p. 391-400 , 2023
Link: https://doi.org/10.1007/..
 
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