Author: "Rostami, Parastoo" / Journal: orphanet journal of rare diseases - Searchworks@Jio Institute Digital Library Search Results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Your search keyword '"Rostami, Parastoo"' showing total 3 results

Start Over Author "Rostami, Parastoo" Journal orphanet journal of rare diseases

3 results on '"Rostami, Parastoo"'

1. Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants

Author: Setoodeh, Aria, Panjeh-Shahi, Samareh, Bahmani, Fariba, Vand-Rajabpour, Fatemeh, Jalilian, Nazanin, Sayarifard, Fatemeh, Abbasi, Farzaneh, Sayarifard, Azadeh, Rostami, Parastoo, Parvaneh, Nima, Akhavan-Niaki, Haleh, Ahmadifard, Mohamadreza, and Tabrizi, Mina
Published: 2022
Full Text: View/download PDF

2. Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Author: Eghbali, Maryam, Abiri, Maryam, Talebi, Saeed, Noroozi, Zahra, Shakiba, Marjan, Rostami, Parastoo, Alimadadi, Hosein, Najafi, Mehri, Yazarlou, Fatemeh, Rabbani, Ali, and Modarressi, Mohammad Hossein
Published: 2020
Full Text: View/download PDF

3. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Author: Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, and Rostami, Parastoo
Published: 2018
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results