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Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands

European journal of endocrinology, 2020-09, Vol.183 (3), p.265

2020

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Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

European thyroid journal, 2023-12, Vol.12 (6), p.1-10

2023

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Newborn Screening for Sickle Cell Disease in Europe

International journal of neonatal screening, 2019-02, Vol.5 (1), p.15-15

2019

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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Clinica chimica acta, 2023-01, Vol.539, p.170-174

2023

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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4487-e4496

2021

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Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Journal of cystic fibrosis, 2019-01, Vol.18 (1), p.54-63

2019

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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in cell and developmental biology, 2020-06, Vol.8, p.499-499

2020

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Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.50-56

2018

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Glue for Manufacturing Heel Prick Filter Cards Does Not Interfere with the Measurement of Analytes for Newborn Screening

International journal of neonatal screening, 2017-12, Vol.3 (4), p.30

2017

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Known and new delta globin gene mutations and their diagnostic significance

Haematologica (Roma), 2006-01, Vol.91 (1), p.129-132

2006

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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in cell and developmental biology, 2021, Vol.9, p.631655-631655

2021

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Implementing Neonatal Screening for Haemoglobinopathies in the Netherlands

Journal of medical screening, 2010-06, Vol.17 (2), p.58-65

2010

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A Confidential Inquiry Estimating the Number of Patients Affected with Sickle Cell Disease and Thalassemia Major Confirms the Need for a Prevention Strategy in The Netherlands

Hemoglobin, 2004, Vol.28 (4), p.287-296

2004

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A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Haematologica (Roma), 2005-04, Vol.90 (4), p.551

2005

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Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening

Hemoglobin, 2010-08, Vol.34 (4), p.354-365

2010

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Sickle cell disease in heel injection screening. II

Nederlands tijdschrift voor geneeskunde, 2009-05, Vol.153 (18), p.858

2009

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Gγ −37 (A→T): A New Nondeletional Hereditary Persistence of Fetal Hemoglobin Determinant Associated with the Rare Codon 91 (+T) δ0-Thalassemia

Hemoglobin, 2006, Vol.30 (3), p.371-377

2006

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Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia

Hemoglobin, 2006, Vol.30 (3), p.371-377

2006

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G γ −37 (A→T): A New Nondeletional Hereditary Persistence of Fetal Hemoglobin Determinant Associated with the Rare Codon 91 (+T) δ 0 -Thalassemia

Hemoglobin, 2006-01, Vol.30 (3), p.371-377

2006

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Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening

Hemoglobin, 2010, Vol.34 (4), p.354-365

2010

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A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Haematologica, 2005, Vol.90 (4), p.551-552

2005

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Adult Onset of a Thalassemia Intermedia Genotype in Association with a − α− 3.7 Homozygosity. Hb G-Accra [β73(E17)Asp→Asn] in Combination with β- and α-Thalassemia in the Same Family

Hemoglobin, 2005, Vol.29 (4), p.269-276

2005

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Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

Newborn Screening for Sickle Cell Disease in Europe

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Glue for Manufacturing Heel Prick Filter Cards Does Not Interfere with the Measurement of Analytes for Newborn Screening

Known and new delta globin gene mutations and their diagnostic significance

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Implementing Neonatal Screening for Haemoglobinopathies in the Netherlands

A Confidential Inquiry Estimating the Number of Patients Affected with Sickle Cell Disease and Thalassemia Major Confirms the Need for a Prevention Strategy in The Netherlands

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening

Sickle cell disease in heel injection screening. II

Gγ −37 (A→T): A New Nondeletional Hereditary Persistence of Fetal Hemoglobin Determinant Associated with the Rare Codon 91 (+T) δ0-Thalassemia

Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia

G γ −37 (A→T): A New Nondeletional Hereditary Persistence of Fetal Hemoglobin Determinant Associated with the Rare Codon 91 (+T) δ 0 -Thalassemia

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Adult Onset of a Thalassemia Intermedia Genotype in Association with a − α− 3.7 Homozygosity. Hb G-Accra [β73(E17)Asp→Asn] in Combination with β- and α-Thalassemia in the Same Family

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