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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 12 articles: HTML format

Single Articles

January 2026
1. HAO L, Huang N, Tao Y, Li H, et al
   ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.
   Hum Mutat. 2026;2026:9913394.
   PubMed     Abstract available
   
   
   
2. MEHTA NH, Dennis E, Allington G, Mekbib KY, et al
   De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.
   Hum Mutat. 2026;2026:8870037.
   PubMed     Abstract available
   
   
   
3. QI JL, Chen HX, Hou HT, Yang Q, et al
   Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects.
   Hum Mutat. 2026;2026:8840490.
   PubMed     Abstract available
   
   
   
4. ZHUANG J, Huang N, Chen YE, Lou H, et al
   Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing.
   Hum Mutat. 2026;2026:3884362.
   PubMed     Abstract available
   
   
   
5. LING J, Pindwarawala M, Gregory-Evans CY, Kirby M, et al
   Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.
   Hum Mutat. 2026;2026:6564149.
   PubMed     Abstract available
   
   
   January 2025
6. XU Y, Gao J, An Y, Zou C, et al
   Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dube Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.
   Hum Mutat. 2025;2025:7194418.
   PubMed     Abstract available
   
   
   
7. XIE T, Huang Z, Chen X, Jin Z, et al
   Key Genes Associated With Functional Specialization of Neonatal Peripheral Monocytes.
   Hum Mutat. 2025;2025:3009253.
   PubMed     Abstract available
   
   
   
8. ZHOU W, Liu F, Li S, Wu D, et al
   Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.
   Hum Mutat. 2025;2025:9990873.
   PubMed     Abstract available
   
   
   
9. WARD A, Mauleon R, Ooi CY, Rosic N, et al
   Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery.
   Hum Mutat. 2025;2025:7570437.
   PubMed     Abstract available
   
   
   
10. ALTIN N, Mamchaoui K, Ohana J, Bigot A, et al
    The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
    Hum Mutat. 2025;2025:1785045.
    PubMed     Abstract available
    
    
    
11. LI X, Gan Y, Tan L, Lin Y, et al
    Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways.
    Hum Mutat. 2025;2025:9978047.
    PubMed     Abstract available
    
    
    January 2024
12. WARD A, Mauleon R, Ooi CY, Rosic N, et al
    Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.
    Hum Mutat. 2024;2024:6165547.
    PubMed     Abstract available
    
    

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