Items where Author is "Behnam, M."

Article

(2022) Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome. CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE. ISSN 2090-6722 2090-6730 J9 - CASE REP OPHTHALMOL

(2022) The role of aquaporin 4 in brain tumors: implications for pathophysiology, diagnosis and therapy. Mol Biol Rep. ISSN 0301-4851

(2021) A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies. CASE REPORTS IN IMMUNOLOGY. ISSN 2090-6609 2090-6617 J9 - CASE REP IMMUNOL

(2021) NovelEXOSC9variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of Human Genetics. pp. 401-407. ISSN 1434-5161

(2021) Sirenomelia: two case reports. J Med Case Rep. p. 217. ISSN 1752-1947

(2019) Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran. International Journal of Pediatrics-Mashhad. pp. 9333-9339. ISSN 2345-5047

(2018) A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. Journal of Human Genetics. pp. 425-430. ISSN 1434-5161

(2018) An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. British Journal of Dermatology. E265-E267. ISSN 0007-0963

(2017) Association of AHSG with alopecia and mental retardation (APMR) syndrome. Human Genetics. pp. 287-296. ISSN 0340-6717

(2017) Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients. Journal of Research in Medical Sciences. ISSN 1735-1995

(2016) Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate. Advanced biomedical research. p. 201. ISSN 2277-9175 (Print) 2277-9175 (Linking)

(2016) A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. Journal of Human Genetics. pp. 177-179. ISSN 1434-5161

(2015) Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation. Gene. pp. 150-152. ISSN 0378-1119

(2015) Mutation of Kisspeptin 1 Gene in Children with Precocious Puberty in Isfahan City. International Journal of Preventive Medicine. ISSN 2008-7802

(2015) Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. Journal of Gastrointestinal and Liver Diseases. pp. 523-526. ISSN 1841-8724

(2015) Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Human genome variation. p. 15034. ISSN 2054-345X (Print) 2054-345X (Linking)