Associated Papers
Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.
Micheu MM et al.
Diagnostics (basel, Switzerland), 2020
Positive maternal serum triple test screening in severe early onset hypophosphatasia.
Witters I et al.
Prenatal Diagnosis, 2004
Correlations of genotype and phenotype in hypophosphatasia.
Zurutuza L et al.
Human Molecular Genetics, 1999
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 0
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