Showing results 1 to 7 of 7
Title | Author(s) | Issue Date | |
---|---|---|---|
Evaluation of the 18-month 'Pilot Study of Newborn Screening for Inborn Errors of Metabolism' in Hong Kong Journal:Hong Kong Journal of Paediatrics (New series) | 2020 | ||
2006 | |||
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A | 2021 | ||
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics | 28-Jan-2014 | ||
2020 | |||
A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies Journal:American Journal of Medical Genetics (Part A) | 2013 | ||
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation Journal:American Journal of Medical Genetics Part A | 2014 |