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Journal Abstract Search

159 related items for PubMed ID: 36585002

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  • 3. [A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant].
    Gao Z, Lyu Y, Zhang K, Gao M, Ma J, Wang D, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun 10; 37(6):661-664. PubMed ID: 32472547
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  • 5. Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.
    Pei Y, Li W, Du L, Wei F.
    Fetal Pediatr Pathol; 2018 Dec 10; 37(6):400-403. PubMed ID: 30572772
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  • 6. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
    Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL, Synapse to Disease Group.
    N Engl J Med; 2009 Feb 05; 360(6):599-605. PubMed ID: 19196676
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  • 7. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V, Mandora A, Botre A, Clement JP.
    Mol Biol Rep; 2020 Nov 05; 47(11):9225-9234. PubMed ID: 33090308
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  • 9. [Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].
    Wang XL, Tian YN, Chen C, Peng J.
    Zhongguo Dang Dai Er Ke Za Zhi; 2023 May 15; 25(5):489-496. PubMed ID: 37272175
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  • 12. [Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
    Shen X, Qi F, Gu C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb 10; 37(2):131-134. PubMed ID: 32034737
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  • 13. [Analysis of ARID1B gene variant in a patient with mental retardation and ejaculatory dysfunction].
    Shi R, Xu Y, Zhang J, Chang Y, Liao W, Wang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep 10; 40(9):1146-1149. PubMed ID: 37643963
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  • 14. [Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
    Li W, Fu T, Tamang S, Wang Y, Wang H, Zhuo Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun 10; 41(6):730-733. PubMed ID: 38818559
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  • 15. [Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51].
    Tang Y, Li X, Wu W, Shi Z, Chen W, Tian Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun 10; 40(6):696-700. PubMed ID: 37212005
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  • 16. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
    Wang Q, Yang Y, Liu L, Tie X, Lei H, Zhang L, Che F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct 10; 39(10):1111-1115. PubMed ID: 36184094
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  • 17. Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene.
    Wang Y, Lv Y, Yang X, Li Y, Li Z, Gao Z, Gai Z, Liu Y.
    Stem Cell Res; 2022 Oct 10; 64():102922. PubMed ID: 36183676
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  • 20. [Genetic and clinical analysis of two children with microcephaly and mental retardation due to a frameshifting variant of CASK gene].
    Liu S, Wang Y, Huang H, Xu P, Jiang Y, Zhou T.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep 10; 41(9):1090-1095. PubMed ID: 39217488
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