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  Pregnancy Disorders

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Articles published in Clin Genet

Retrieve available abstracts of 14 articles:
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Single Articles


    January 2025
  1. DA SILVA FRANCO JF, Neves RL, Menezes AN, Nogueira BR, et al
    Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.
    Clin Genet. 2025;107:113-114.
    PubMed     Abstract available


    December 2024
  2. TENORIO-CASTANO J, Mansilla Aparicio E, Garcia Santiago FA, Klotz CM, et al
    Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
    Clin Genet. 2024;106:713-720.
    PubMed     Abstract available


    October 2024
  3. GAUTHIER LW, Gossez M, Malcus C, Viel S, et al
    B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
    Clin Genet. 2024;106:476-482.
    PubMed     Abstract available


    April 2024
  4. VANDEN BROEK K, Ryu JR, Perrier R, Tyndall AV, et al
    SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.
    Clin Genet. 2024;105:386-396.
    PubMed     Abstract available


    May 2023
  5. AL-KOUATLY HB, Shivashankar K, Mossayebi MH, Makhamreh M, et al
    Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
    Clin Genet. 2023;103:503-512.
    PubMed     Abstract available


  6. GHESH L, Desir J, Haye D, Le Tanno P, et al
    Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
    Clin Genet. 2023;103:560-565.
    PubMed     Abstract available


    December 2022
  7. TAO C, Zhu T, Tang S, Lu J, et al
    Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
    Clin Genet. 2022 Dec 21. doi: 10.1111/cge.14288.
    PubMed    


  8. GHESH L, Besnard T, Joubert M, Picard V, et al
    A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
    Clin Genet. 2022;102:543-547.
    PubMed     Abstract available


    November 2022
  9. DE FRANCO E, Wakeling MN, Frew RD, Russ-Silsby J, et al
    A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly.
    Clin Genet. 2022;102:457-458.
    PubMed     Abstract available


    November 2021
  10. IYER NS, Gimovsky AC, Ferreira CR, Critchlow E, et al
    Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
    Clin Genet. 2021;100:493-503.
    PubMed     Abstract available


    October 2021
  11. COUCEIRO J, Matos I, Mendes JJ, Baptista PV, et al
    Inflammatory factors, genetic variants, and predisposition for preterm birth.
    Clin Genet. 2021;100:357-367.
    PubMed     Abstract available


    June 2021
  12. REZAEI M, Suresh B, Bereke E, Hadipour Z, et al
    Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
    Clin Genet. 2021;99:823-828.
    PubMed     Abstract available


    April 2021
  13. TABOLACCI E, Molinario C, Marangi G, Nobile V, et al
    Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
    Clin Genet. 2021;99:601-603.
    PubMed    


    February 2021
  14. ZHENG W, Hu H, Dai J, Zhang S, et al
    Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.
    Clin Genet. 2021;99:286-291.
    PubMed     Abstract available


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