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Lista de obras de Afagh Alavi

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.

artículo científico publicado en 2018

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations

scientific article published on 13 November 2018

Clinical spectrum in multiple families with primary COQ10 deficiency

artículo científico publicado en 2020

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

artículo científico publicado en 2020

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

artículo científico publicado en 2007

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

artículo científico publicado en 2012

HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry

artículo científico publicado en 2014

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

artículo científico publicado en 2013

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4

scientific article published on 21 November 2011

Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients

artículo científico publicado en 2018

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.

artículo científico publicado en 2008

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

artículo científico publicado en 2012

Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature

artículo científico publicado en 2018

Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients.

artículo científico publicado en 2013

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