Conference information
اولین همایش علوم پایه دربیماریهای ارثی کودکان1st congress of basic sciences in inherited pediatric disorders
Date: 6 November 2019
Index date: 25 January 2020
Pages: 90
Papers:69
Views: 46296
Conference national idBSIPD01
Authors: 184 author
1st congress of basic sciences in inherited pediatric disorders papers
2. A case of familial restrictive cardiomyopathy due to a novel variant in TNNI3
Year: 1398Language: EnglishPages: 17. Assessment of Genotype-phenotype correlation in Iranian Patients with Glycogen storage disease type 1
Year: 1398Language: EnglishAuthors: Maryam Eghbali - Maryam Abiri - سعید طالبی - Zahra Noroozi - Parastoo Rostami - Hosein AlimadadiPages: 110. CAV3 Variants among Iranian Patients with Cardiomyopathy
Year: 1398Language: EnglishAuthors: Bahareh Ghanadi - Nejat Mahdieh - Seyed Hamid Jamaldini - Sepideh Taghavi - Bahareh RabbaniPages: 113. Clinical, Molecular Data and Outcome of 25 Iranian Patients Affected of Isolated Methylmalonic Aciduria: A case series
Year: 1398Language: EnglishPages: 118. Diagnosis of a rare ciliopathy by genetic test -Whole Exome Sequencing- in a nonconsanguineous marriage family: case report
Year: 1398Language: EnglishPages: 122. Familial Glucocorticoid Deficiency Type 1: A Case Report
Year: 1398Language: EnglishPages: 124. Genotyping of congenital hyperinsulinemia of infancy in Iranian population; The first larg report from Iran
Year: 1398Language: EnglishAuthors: Somayeh Hashemian - Reza Jafarzadeh Esfehani - Siroos Karimdadi - Rahim Vakili - Mohammad Reza Abbaszadegan - Najmeh Malekzadeh gonabadiPages: 125. Glycogen storage disease type 0: a novel deleterious mutation
Year: 1398Language: EnglishPages: 126. Hyperinsulinemia in kabuki syndrome: a case with partial deletion of KMT2D gene
Year: 1398Language: EnglishPages: 127. Identification of a novel mutation in PEX16 in a patient with Peroxisomal disorders: a case report
Year: 1398Language: EnglishPages: 128. Infantile Alexander Disease in Iran: a Novel GFAP Mutation
Year: 1398Language: EnglishAuthors: Mahya Haghi panah - Alireza Tavasoli - Mahdmoud Reza Ashrafi - Nejat Mahdieh, - Bahareh RabbaniPages: 129. Insulin receptor gene mutations in a patient: A story from hyperinsulinism to molecular understanding of Leprechaunism (Donohue) syndrome
Year: 1398Language: EnglishPages: 132. Mutation in the ALDH1A3 Gene Causes Anophthalmia in pediatric patient in a large Iranian Consanguineous Families
Year: 1398Language: EnglishAuthors: Seyed hamid reza Mirabutalebi - Mohammadreza Dehghani - Masoud Dehghan Tezerjani - Zahra Metanat - Mohammad Yahya Vahidi MehrjardiPages: 133. Neonatal Stem Cell Therapies in Neonatal: Hopes and Fears
Year: 1398Language: EnglishPages: 136. Novel candidate genes in autosomal recessive neurodevelopmental disorders: A three year cohort study
Year: 1398Language: EnglishAuthors: Ehsan Ghayoor Karimani - Farah Ashrafzadeh - Mehran Beiraghi Toosi - Barbara Vona - Reza Maroofian - Maryam NajafiPages: 140. Report of two novel IVD gene variants in Iranian population
Year: 1398Language: EnglishAuthors: Niloofar Mojtahedifard - Razieh Sangsari - Maryam Pourirahim - Bahareh Rabbani - Nejat MahdiehPages: 142. TNNI3 gene mutation as a cause of cardiomyopathy among Iranian patients
Year: 1398Language: EnglishPages: 143. The NKX2.5 Gene Mutations in Iranian Patients with Ventricular Septal Defects
Year: 1398Language: EnglishAuthors: Saba Hamidian - Nejat Mahdieh - Seyed Hamid Jamaldini - Hojat Mortezaeian - Bahareh RabbaniPages: 145. The effect of Glutamine on serum levels of glyoxal and methylglyoxal in type 2 diabetic rats
Year: 1398Language: EnglishPages: 146. The study of KCNE2 gene mutations in Iranian LQTS patients
Year: 1398Language: EnglishAuthors: Rambod norouzi - Radin Norouzi - Nejat Mahdieh - Tahereh Foroutan - Mohammad Dalili - Mohammad Rafie KhorgamiPages: 147. USP8 variants as a cause of Hereditary spastic paraplegias: Case report
Year: 1398Language: EnglishAuthors: Katayoun Heshmatzad - Alireza Tavasoli - Sajad shahrezaei - Tannaz masoumi - Nejat mahdieh - Bahareh RabbaniPages: 1
نتایج 1 تا 50 از مجموع 69