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Intellectual and Motor Development of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

The journal of clinical endocrinology and metabolism, 2006-02, Vol.91 (2), p.418-424

2006

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Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Clinical genetics, 2017-03, Vol.91 (3), p.411-425

2017

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Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

The journal of clinical endocrinology and metabolism, 2006-09, Vol.91 (9), p.3370-3376

2006

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Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

European journal of endocrinology, 2008-08, Vol.159 (2), p.113

2008

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Quality of Life, Developmental Milestones, and Self-Esteem of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

The journal of clinical endocrinology and metabolism, 2008-07, Vol.93 (7), p.2654-2661

2008

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Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

Clinical genetics, 2011-10, Vol.80 (4), p.346-353

2011

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Disturbance of the Fetal Thyroid Hormone State Has Long-Term Consequences for Treatment of Thyroidal and Central Congenital Hypothyroidism

The journal of clinical endocrinology and metabolism, 2005-07, Vol.90 (7), p.4094-4100

2005

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

European journal of medical genetics, 2017-09, Vol.60 (9), p.465-473

2017

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Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.390-396

2013

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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.850-855

2012

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A comprehensive thermodynamic theory of the Soret effect in a multicomponent gas, liquid, or solid

The Journal of chemical physics, 2001-10, Vol.115 (14), p.6330-6341

Kempers, L. J. T. M.

2001

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Effects of naproxen and sulphasalazine or methotrexate on hypothalamic-pituitary-adrenal axis activity in patients with rheumatoid arthritis

Clinical and experimental rheumatology, 2011-01, Vol.29 (1), p.35

2011

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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.264-264, Article 264

2019

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Idiopathic precocious puberty versus puberty in adopted children; auxological response to gonadotrophin-releasing hormone agonist treatment and final height

European journal of endocrinology, 2002-11, Vol.147 (5), p.609

2002

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HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN

European journal of medical genetics, 2023-01, Vol.66 (1), p.104673-104673, Article 104673

2023

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The Heritage of Soviet Oriental Studies

1, 2011

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The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism

Journal of pediatric endocrinology & metabolism : JPEM, 2006-12, Vol.19 (12), p.1405

2006

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Reassessing Orientalism: Interlocking Orientologies during the Cold War

1, 2015

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Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey

Pediatric nephrology (Berlin, West), 2023-09, Vol.38 (9), p.3035-3042

2023

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Karyotype - Phenotype Associations in Patients with Turner Syndrome

Pediatric endocrinology reviews : PER, 2019-04, Vol.16 (4), p.431

2019

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Tisagenlecleucel in Adult Relapsed or Refractory Diffuse Large B-Cell Lymphoma

The New England journal of medicine, 2019-01, Vol.380 (1), p.45-56

2019

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Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease

Nephrology, dialysis, transplantation, 2018-12, Vol.33 (12), p.2208-2217

2018

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Need for Long-term Follow-up in Enterohemorrhagic Escherichia coli—Associated Hemolytic Uremic Syndrome Due to Late-Emerging Sequelae

Clinical infectious diseases, 2012-05, Vol.54 (10), p.1413-1421

2012

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A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

European heart journal, 2013-08, Vol.34 (suppl 1), p.P2113-P2113

2013

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Growth in Very Young Children Undergoing Chronic Peritoneal Dialysis

Journal of the American Society of Nephrology, 2011-12, Vol.22 (12), p.2303-2312

2011

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Intellectual and Motor Development of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

Quality of Life, Developmental Milestones, and Self-Esteem of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

Disturbance of the Fetal Thyroid Hormone State Has Long-Term Consequences for Treatment of Thyroidal and Central Congenital Hypothyroidism

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

A comprehensive thermodynamic theory of the Soret effect in a multicomponent gas, liquid, or solid

Effects of naproxen and sulphasalazine or methotrexate on hypothalamic-pituitary-adrenal axis activity in patients with rheumatoid arthritis

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Idiopathic precocious puberty versus puberty in adopted children; auxological response to gonadotrophin-releasing hormone agonist treatment and final height

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN

The Heritage of Soviet Oriental Studies

The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism

Reassessing Orientalism: Interlocking Orientologies during the Cold War

Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey

Karyotype - Phenotype Associations in Patients with Turner Syndrome

Tisagenlecleucel in Adult Relapsed or Refractory Diffuse Large B-Cell Lymphoma

Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease

Need for Long-term Follow-up in Enterohemorrhagic Escherichia coli—Associated Hemolytic Uremic Syndrome Due to Late-Emerging Sequelae

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

Growth in Very Young Children Undergoing Chronic Peritoneal Dialysis

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