Associated Papers
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H et al.
Bmc Nephrology, 2017
Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.
Pandit RA et al.
International Journal of Hematology, 2008
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 0
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