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HK J Paediatr (New Series)
Vol 11. No. 4, 2006


Editorial

  • New Paradigms in Medical Genetics
    STS Lam
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Original Article

  • Phenotypic Spectrum of 3 Pseudohypoparathyroidism type 1a, and 2 Pseudopseudohypoparathyroidism Chinese Patients with Novel GNAS Mutations
    ACF Lam, DHC Chan, KKS Lai, TMF Tong, IFM Lo, STS Lam
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  • A Clinical and Molecular Study of 51 Chinese Families with Noonan Syndrome
    DKH Chan, IFM Lo, ACF Lam, TMF Tong, DHC Chan, STS Lam
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Current Topic

  • Ethical Issues in Genotyping for Pharmacogenetics and Genetic Disorders
    HM Sass
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Occasional Survey

  • Disclosing Genetic Information to Relatives or Carriers?
    S Froehlich, HM Sass, Y Wang
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Case Report

  • Smith-Magenis Syndrome in Chinese with Previously Unreported Craniofacial Features and Association with Joubert Phenotype
    ACF Lam, KKS Lai, ATC Chau, LPK Cheng, STS Lam
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  • Distinctive Phenotype in a Case of Ring Chromosome 22 with Features of 22q13.3 Deletion Syndrome
    ACF Lam, KKS Lai, STS Lam
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  • Thanatophoric Dysplasia Type 1 (TD1) without "Telephone Receivers"
    ACF Lam, YY Lam, TMF Tong, DKH Chan, WL Lau, DKK Ng, CS Ho, Kw Chan, STS Lam
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  • Boomerang Dysplasia in a Chinese Female Fetus
    ACF Lam, SJ Hu, TMF Tong, STS Lam
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  • A Novel Mutation of the EBP Gene Causes Conradi-Huner mann Syndrome
    IFM Lo, W Kwong, RSY Lee, S Tam, TMF Tong, DKK Ng, STS Siu, STS Lam
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  • Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene
    ACF Lam, TMF Tong, MHY Tang, S Lo, CP Lee, E Lau, STS Lam
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  • Desbuquois Syndrome Atypical Hands Subtype with No Mutation in FLNB Gene
    ACF Lam, KKS Lai, DHC Chan, TMF Tong, STS Lam
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  • Diagnostic Difficulties in Sanfilippo Disease
    DKH Chan, CW Lam, STS Lam
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  • A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures
    ACF Lam, CW Lam, MHY Tang, JWY Chu, STS Lam
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