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Journal Abstract Search

235 related items for PubMed ID: 30853973

  • 21. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 22. Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family.
    Zhang J, Liu H, Wang M, Xu Y, Zhu D, Yang F.
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2333. PubMed ID: 38083972
    [Abstract] [Full Text] [Related]

  • 23. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V, Mandora A, Botre A, Clement JP.
    Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
    [Abstract] [Full Text] [Related]

  • 24. A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
    Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T.
    Intractable Rare Dis Res; 2017 Aug; 6(3):177-182. PubMed ID: 28944139
    [Abstract] [Full Text] [Related]

  • 25. A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.
    Lin Y, Zeng C, Lu Z, Lin R, Liu L.
    Clin Genet; 2019 Jul; 96(1):98-101. PubMed ID: 31056748
    [Abstract] [Full Text] [Related]

  • 26. TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
    Penon-Portmann M, Hodoglugil U, Arun P W, Yip T, Slavotinek A, Tenney JL.
    Am J Med Genet A; 2023 Apr; 191(4):1077-1082. PubMed ID: 36574751
    [Abstract] [Full Text] [Related]

  • 27. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
    van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE.
    Mol Psychiatry; 2016 Jan; 21(1):126-32. PubMed ID: 25707398
    [Abstract] [Full Text] [Related]

  • 28. Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.
    Rashvand Z, Najmabadi H, Kahrizi K, Mozhdehipanah H, Moradi M, Estaki Z, Taherkhani K, Nikzat N, Najafipour R, Omrani MD.
    Iran J Child Neurol; 2024 Jan; 18(1):25-41. PubMed ID: 38375126
    [Abstract] [Full Text] [Related]

  • 29. A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
    Bacchelli E, Ceroni F, Pinto D, Lomartire S, Giannandrea M, D'Adamo P, Bonora E, Parchi P, Tancredi R, Battaglia A, Maestrini E.
    J Neurodev Disord; 2014 Jan; 6(1):17. PubMed ID: 25050139
    [Abstract] [Full Text] [Related]

  • 30. [Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].
    Bai Z, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1115-1119. PubMed ID: 31703139
    [Abstract] [Full Text] [Related]

  • 31. Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
    Naseer MI, Rasool M, Abdulkareem AA, Chaudhary AG, Zaidi SK, Al-Qahtani MH.
    Pak J Med Sci; 2019 Nov 10; 35(3):764-770. PubMed ID: 31258591
    [Abstract] [Full Text] [Related]

  • 32.
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  • 33. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S.
    BMC Med Genet; 2015 Nov 05; 16():102. PubMed ID: 26542245
    [Abstract] [Full Text] [Related]

  • 34. Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.
    Huang YS, Fang TH, Kung B, Chen CH.
    J Pers Med; 2022 Jun 20; 12(6):. PubMed ID: 35743796
    [Abstract] [Full Text] [Related]

  • 35. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
    Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T.
    Brain Dev; 2016 Mar 20; 38(3):337-40. PubMed ID: 26421802
    [Abstract] [Full Text] [Related]

  • 36. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
    Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA.
    Am J Hum Genet; 2009 Dec 20; 85(6):897-902. PubMed ID: 20004763
    [Abstract] [Full Text] [Related]

  • 37. A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.
    Yi S, Tang X, Zhang Q, Liang Y, Huang J, Zhang S, Huang L, Yi S, Huang M, Qin Z, Luo J.
    Heliyon; 2024 Mar 30; 10(6):e27946. PubMed ID: 38496842
    [Abstract] [Full Text] [Related]

  • 38. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
    Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL.
    Clin Genet; 2015 Jul 30; 88(1):e1-4. PubMed ID: 25930971
    [Abstract] [Full Text] [Related]

  • 39. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
    Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F.
    Epilepsia; 2012 Dec 30; 53(12):2120-7. PubMed ID: 23205931
    [Abstract] [Full Text] [Related]

  • 40. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
    Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.
    Mol Autism; 2017 Dec 30; 8():59. PubMed ID: 29152164
    [Abstract] [Full Text] [Related]

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