Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

por Ahmadloo, Somayeh, Talebi, Saeed, Miryounesi, Mohammad, Pasalar, Parvin, Keramatipour, Mohammad
Publicado 2016

An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

por Kalayinia, Samira, Talebi, Saeed, Miryounesi, Mohammad, Sarkhail, Peymaneh, Mahdieh, Nejat
Publicado 2021

An evaluation of gastric adenocarcinoma-associated CircRNAs based on microarray meta-analysis and ceRNA networks

por Yesharim, Liora, Talebi, Saeed, Mojbafan, Marzieh, Alemrajabi, Mahdi, Teimourian, Shahram
Publicado 2022

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient

por Alaei, Mohammad Reza, Talebi, Saeed, Ghofrani, Mohammad, Taghizadeh, Mohsen, Keramatipour, Mohammad
Publicado 2016

A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

por AMIRKASHANI, Davoud, ASADOLLAHI, Mostafa, HOSSEINI, Rozita, TALEBI, Saeed, GOLCHEHRE, Zahra, KERAMATIPOUR, Mohammad
Publicado 2023

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

por Rashidi-Nezhad, Ali, Talebi, Saeed, Saebnouri, Homeira, Akrami, Seyed Mohammad, Reymond, Alexandre
Publicado 2014

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

por Alaei, Mohammad Reza, Kheirkhahan, Meghdad, Talebi, Saeed, Davoudi-Dehaghani, Elham, Keramatipour, Mohammad
Publicado 2020

Predisposing Factors for Nephrolithiasis and Nephrocalcinosis in Cystic Fibrosis

por Kianifar, Hamid-Reza, Talebi, Saeedeh, Khazaei, Mahmoodreza, Talebi, Saeed, Alamdaran, Ali, Hiradfar, Simin
Publicado 2011

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

por Alizadeh, Rasoul, Jamshidi, Sanaz, Keramatipour, Mohammad, Moeinian, Parisa, Hosseini, Rozita, Otukesh, Hasan, Talebi, Saeed
Publicado 2020

Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

por Gholizad-kolveiri, Soraya, Hooman, Nakysa, Alizadeh, Rasoul, Hoseini, Rozita, Otukesh, Hasan, Talebi, Saeed, Akouchekian, Mansoureh
Publicado 2020

Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor

por Nazari, Tahere, Rashidi-Nezhad, Ali, Ganji, Maziar, Rezaei, Zahra, Talebi, Saeed, Ghasemi, Nasrin, Tavakkoly Bazzaz, Javad
Publicado 2019

Investigation on estrogen receptor alpha gene polymorphisms in Iranian women with recurrent pregnancy loss

por Mahdavipour, Marzieh, Idali, Farah, Zarei, Saeed, Talebi, Saeed, Fatemi, Ramina, Jeddi-Tehrani, Mahmood, Pahlavan, Somayeh, Rajaei, Farzad
Publicado 2014

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

por RAZIPOUR, Masoumeh, KOOSHAVAR, Daniz, ALAVINEJAD, Elaheh, SAJEDI, Seyede Zahra, MOHAJER, Neda, SETOODEH, Aria, TALEBI, Saeed, KERAMATIPOUR, Mohammad
Publicado 2017

A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree

por Alavinejad, Elaheh, Sajedi, Seyede Zahra, Razipour, Masoumeh, Entezam, Mona, Mohajer, Neda, Setoodeh, Aria, Talebi, Saeed, Keramatipour, Mohammad
Publicado 2017

An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria

por Talebi, Saeed, Entezam, Mona, Mohajer, Neda, Kazemi-sefat, Golnaz-Ensieh, Razipour, Masoumeh, Ahmadloo, Somayeh, Setoodeh, Aria, Keramatipour, Mohammad
Publicado 2016

The importance of CDC27 in cancer: molecular pathology and clinical aspects

por Kazemi-Sefat, Golnaz Ensieh, Keramatipour, Mohammad, Talebi, Saeed, Kavousi, Kaveh, Sajed, Roya, Kazemi-Sefat, Nazanin Atieh, Mousavizadeh, Kazem
Publicado 2021

Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach

por Maryami, Fereshteh, Rismani, Elham, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Motlagh, Fatemeh Zafarghandi, Kordafshari, Alireza, Talebi, Saeed, Rahimi, Hamzeh, Zeinali, Sirous
Publicado 2023

The effect of Setarud (IMOD(TM)) on angiogenesis in transplanted human ovarian tissue to nude mice

por Hormozi, Maryam, Talebi, Saeed, Khorram Khorshid, Hamid Reza, Zarnani, Amir-Hassan, Kamali, Koorosh, Jeddi-Tehrani, Mahmood, Soltangoraee, Haleh, Akhondi, Mohammad Mehdi
Publicado 2015

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

por Eghbali, Maryam, Fatemi, Kiyana Sadat, Salehpour, Shadab, Abiri, Maryam, Saei, Hassan, Talebi, Saeed, Olyaei, Nasrin Alipour, Yassaee, Vahid Reza, Modarressi, Mohammad Hossein
Publicado 2021

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

por Eghbali, Maryam, Abiri, Maryam, Talebi, Saeed, Noroozi, Zahra, Shakiba, Marjan, Rostami, Parastoo, Alimadadi, Hosein, Najafi, Mehri, Yazarlou, Fatemeh, Rabbani, Ali, Modarressi, Mohammad Hossein
Publicado 2020