These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

177 related items for PubMed ID: 33160097

  • 1. 17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
    Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA.
    Eur J Med Genet; 2020 Dec; 63(12):104094. PubMed ID: 33160097
    [Abstract] [Full Text] [Related]

  • 2. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
    Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW.
    BMC Med Genet; 2017 Oct 25; 18(1):119. PubMed ID: 29070031
    [Abstract] [Full Text] [Related]

  • 3. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A.
    Eur J Med Genet; 2018 Aug 25; 61(8):459-464. PubMed ID: 29549028
    [Abstract] [Full Text] [Related]

  • 4. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H.
    Eur J Med Genet; 2020 Jan 25; 63(1):103611. PubMed ID: 30615951
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
    Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z.
    Am J Med Genet A; 2015 Jun 25; 167(6):1381-5. PubMed ID: 25851617
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.
    Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T, Rizzo R.
    Am J Med Genet A; 2017 Jun 25; 173(6):1649-1655. PubMed ID: 28407444
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
    Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M.
    Eur J Med Genet; 2018 May 25; 61(5):248-252. PubMed ID: 29274487
    [Abstract] [Full Text] [Related]

  • 11. Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
    Osio D, Rankin J, Koillinen H, Reynolds A, Van Esch H.
    Am J Med Genet A; 2018 Jan 25; 176(1):209-213. PubMed ID: 29130599
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
    Shi S, Lin S, Chen B, Zhou Y.
    Mol Med Rep; 2017 Nov 25; 16(5):6837-6845. PubMed ID: 28901431
    [Abstract] [Full Text] [Related]

  • 18. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.
    BMC Med Genet; 2015 Aug 22; 16():68. PubMed ID: 26293599
    [Abstract] [Full Text] [Related]

  • 19. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
    Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.
    Nat Commun; 2019 Oct 15; 10(1):4679. PubMed ID: 31616000
    [Abstract] [Full Text] [Related]

  • 20. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O.
    Am J Med Genet A; 2018 Feb 15; 176(2):391-398. PubMed ID: 29193617
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.