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deniz kooshavar[Author]
(1 results)?
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164.
Brain. 2022.
PMID: 35769015
Free PMC article.
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M, Pinares-Garcia P, Stephenson SE, Lee WS, Kooshavar D, Mclean CA, Howell KB, Leventer RJ, Reid CA, Lockhart PJ.
Coleman M, et al. Among authors: kooshavar d.
Neurol Genet. 2024 Mar 11;10(2):e200135. doi: 10.1212/NXG.0000000000200135. eCollection 2024 Apr.
Neurol Genet. 2024.
PMID: 38496361
Free PMC article.
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Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.
Akbaroghli S, Kooshavar D, Golchehre Z, Karamzade A, Saberi M, Alaei MR, Abbasi Sadegh M, Asadollahi M, Keramatipour M.
Akbaroghli S, et al. Among authors: kooshavar d.
Iran J Child Neurol. 2022 Winter;16(1):123-133. doi: 10.22037/ijcn.v16i1.31650. Epub 2022 Jan 1.
Iran J Child Neurol. 2022.
PMID: 35222663
Free PMC article.
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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ.
Kooshavar D, et al.
Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024.
Brain Commun. 2024.
PMID: 38444904
Free PMC article.
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Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.
Razipour M, Kooshavar D, Alavinejad E, Sajedi SZ, Mohajer N, Setoodeh A, Talebi S, Keramatipour M.
Razipour M, et al. Among authors: kooshavar d.
Iran J Public Health. 2017 Apr;46(4):560-564.
Iran J Public Health. 2017.
PMID: 28540274
Free PMC article.
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Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
Kooshavar D, Razipour M, Movasat M, Keramatipour M.
Kooshavar D, et al.
Int J Pediatr Otorhinolaryngol. 2018 Jan;104:10-13. doi: 10.1016/j.ijporl.2017.10.022. Epub 2017 Oct 18.
Int J Pediatr Otorhinolaryngol. 2018.
PMID: 29287847
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Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.
Kooshavar D, Tabatabaiefar MA, Farrokhi E, Abolhasani M, Noori-Daloii MR, Hashemzadeh-Chaleshtori M.
Kooshavar D, et al.
Int J Pediatr Otorhinolaryngol. 2013 Feb;77(2):189-93. doi: 10.1016/j.ijporl.2012.10.015. Epub 2012 Nov 8.
Int J Pediatr Otorhinolaryngol. 2013.
PMID: 23141803
Free article.
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