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An Examination of the Propositus of Enhanced S-Cone Syndrome 30 Years After Diagnosis.
Novel germline JAK2R715T mutation causing PV-like erythrocytosis in 3 generations. Amelioration by R…
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-…
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis…
Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant i…
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Measurement of the Electromechanical Window to Improve the Diagnosis of Congenital Long QT Syndrome
Risk Factors of Venous Thromboembolism in Women During Hormonal Exposure
Renal HYPODYSPLASIA : Genetic and Familial Assessment
Non-invasive Prenatal Diagnosis of Monogenic Disorders by Linked-reads Technology
Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
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