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

118 related items for PubMed ID: 38378010

  • 1. Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
    Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M.
    Clin Genet; 2024 Jul; 106(1):47-55. PubMed ID: 38378010
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
    Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S.
    Exp Eye Res; 2024 Jul; 244():109945. PubMed ID: 38815792
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
    Ain NU, Fatima Z, Naz S, Makitie O.
    BMC Musculoskelet Disord; 2021 Jul 20; 22(1):630. PubMed ID: 34284742
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 8. Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
    Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM.
    Eur J Hum Genet; 2015 Sep 20; 23(9):1207-15. PubMed ID: 25491636
    [Abstract] [Full Text] [Related]

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

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

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

  • 14. Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
    Tehreem R, Arooj A, Siddiqui SN, Naz S, Afshan K, Firasat S.
    PLoS One; 2022 Sep 20; 17(9):e0274335. PubMed ID: 36083974
    [Abstract] [Full Text] [Related]

  • 15. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
    Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB.
    Sci Rep; 2024 Apr 22; 14(1):9230. PubMed ID: 38649688
    [Abstract] [Full Text] [Related]

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

  • 17. Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
    Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W.
    Clin Genet; 2024 Sep 22; 106(3):347-353. PubMed ID: 38774940
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.