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

475 related items for PubMed ID: 31994750

  • 1. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ.
    Prenat Diagn; 2020 Apr; 40(5):577-584. PubMed ID: 31994750
    [Abstract] [Full Text] [Related]

  • 2. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
    Mattos EP, Silva AA, Magalhães JA, Leite JC, Leistner-Segal S, Gus-Kessler R, Perez JA, Vedolin LM, Torreblanca-Zanca A, Lapunzina P, Ruiz-Perez VL, Sanseverino MT.
    Am J Med Genet A; 2015 Jun; 167(6):1323-9. PubMed ID: 25913727
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 5. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
    Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS.
    Am J Hum Genet; 2014 Jun 05; 94(6):898-904. PubMed ID: 24836451
    [Abstract] [Full Text] [Related]

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

  • 7. [Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].
    Tao Z, Lu F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb 10; 38(2):170-173. PubMed ID: 33565074
    [Abstract] [Full Text] [Related]

  • 8. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
    Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW.
    J Child Neurol; 2017 May 10; 32(6):543-549. PubMed ID: 28135894
    [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. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
    Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.
    Nat Med; 2019 Mar 10; 25(3):439-447. PubMed ID: 30692697
    [Abstract] [Full Text] [Related]

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

  • 14. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
    Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI.
    Acta Obstet Gynecol Scand; 2021 Jun 10; 100(6):1106-1115. PubMed ID: 33249554
    [Abstract] [Full Text] [Related]

  • 15. Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
    Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P.
    Cesk Patol; 2023 Jun 10; 59(2):68-79. PubMed ID: 37468326
    [Abstract] [Full Text] [Related]

  • 16. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
    Zhang X, Ren Y, Song R, Wang L, Xu H, Xie X, Zhou H, Sun P, Zhang M, Zhao Q, You Y, Gao Z, Meng Y, Lu Y.
    Prenat Diagn; 2021 Oct 10; 41(11):1401-1413. PubMed ID: 34091931
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.
    Tonni G, Palmisano M, Lituania M, Grisolia G, Baffico AM, Bonasoni MP, Pattacini P, De Felice C, Araujo Júnior E.
    Taiwan J Obstet Gynecol; 2016 Dec 10; 55(6):771-776. PubMed ID: 28040117
    [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 24.