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Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.
Clin Genet. 2019.
PMID: 30315573
Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.
Hu H, et al. Among authors: pourfatemi f.
Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.
Mol Psychiatry. 2019.
PMID: 29302074
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Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.
Alehabib E, Alinaghi S, Pourfatemi F, Darvish H.
Alehabib E, et al. Among authors: pourfatemi f.
Int J Pediatr Otorhinolaryngol. 2020 Aug;135:110014. doi: 10.1016/j.ijporl.2020.110014. Epub 2020 Apr 21.
Int J Pediatr Otorhinolaryngol. 2020.
PMID: 32422366
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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome.
Ghaedi H, Ramsheh SM, Omidvar ME, Labbaf A, Alehabib E, Akbari S, Pourfatemi F, Darvish H.
Ghaedi H, et al. Among authors: pourfatemi f.
Genes Dis. 2019 Jul 27;7(4):614-619. doi: 10.1016/j.gendis.2019.07.011. eCollection 2020 Dec.
Genes Dis. 2019.
PMID: 33335961
Free PMC article.
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