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Journal Abstract Search

322 related items for PubMed ID: 30315573

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  • 3. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
    Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.
    Mol Psychiatry; 2018 Apr; 23(4):973-984. PubMed ID: 28397838
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  • 4. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
    Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I.
    Hum Genet; 2021 Jul; 140(7):1011-1029. PubMed ID: 33710394
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  • 7. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.
    Ataei R, Khoshbakht S, Beheshtian M, Abedini SS, Behravan H, Esmaeili Dizghandi S, Godratpour F, Mirzaei S, Bahrami F, Akbari M, Keshavarzi F, Kahrizi K, Najmabadi H.
    Arch Iran Med; 2019 Aug 01; 22(8):461-471. PubMed ID: 31679349
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  • 10. The PTRHD1 Mutation in Intellectual Disability.
    Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R.
    Arch Iran Med; 2021 Oct 01; 24(10):747-751. PubMed ID: 34816696
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  • 12. Genetics of recessive cognitive disorders.
    Musante L, Ropers HH.
    Trends Genet; 2014 Jan 01; 30(1):32-9. PubMed ID: 24176302
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  • 14. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.
    Zare Ashrafi F, Akhtarkhavari T, Fattahi Z, Asadnezhad M, Beheshtian M, Arzhangi S, Najmabadi H, Kahrizi K.
    Arch Iran Med; 2023 Apr 01; 26(4):186-197. PubMed ID: 38301078
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