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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

Clinical genetics, 2013-09, Vol.84 (3), p.290-293

2013

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

Neurology, 1998-06, Vol.50 (6), p.1749-1754

1998

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Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Journal of medical genetics, 2003-05, Vol.40 (5), p.e53-53

2003

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Factors affecting the mitotic stability of high‐copy‐number integration into the ribosomal DNA of Saccharomyces cerevisiae

Yeast (Chichester, England), 1996-04, Vol.12 (5), p.467-477

1996

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A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Neurology, 1998-01, Vol.50 (1), p.293

1998

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Termination of transcription by yeast RNA polymerase I

Nucleic acids research, 1989-11, Vol.17 (22), p.9127-9146

1989

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Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Human genetics, 1996-11, Vol.98 (5), p.513-517

1996

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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

The journal of clinical endocrinology and metabolism, 2003-08, Vol.88 (8), p.3852-3859

2003

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Use of TaqI Digestion May Lead to Incorrect Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Molecular genetics and metabolism, 2000-08, Vol.70 (4), p.322-324

2000

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

Molecular vision, 2011, Vol.17, p.3013-3024

2011

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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

Human genetics, 2003-08, Vol.113 (3), p.268-275

2003

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X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder

Human genetics, 1993-03, Vol.91 (1), p.51-54

1993

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Enzymological versus DNA investigations in mitochondrial (encephalo‐)myopathies

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.534-536

1993

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Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations

International journal of pediatric otorhinolaryngology, 2005-02, Vol.69 (2), p.165-174

2005

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Nadroparin or fondaparinux versus no thromboprophylaxis in patients immobilised in a below-knee plaster cast (PROTECT): A randomised controlled trial

Injury, 2017-04, Vol.48 (4), p.936-940

2017

Volltextzugriff (PDF)

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Neurology, 1998-01, Vol.50 (1), p.293-295

1998

Volltextzugriff (PDF)

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

Clinical genetics, 2013, Vol.84 (3), p.290-293

2013

Volltextzugriff (PDF)

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Journal of medical genetics, 2003, Vol.40 (5), p.e53-e53

2003

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Enzymological versus DNA investigations in mitochondrial (encephalo-)-myopathies: Inherited metabolic disease and the brain

Journal of inherited metabolic disease, 1993, Vol.16 (3), p.534-536

1993

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Clinical and histopathological characterization of paradoxical head and neck erythema in patients with atopic dermatitis treated with dupilumab: a case series

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.745-749

2020

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Effectiveness of dupilumab treatment in 95 patients with atopic dermatitis: daily practice data

British journal of dermatology (1951), 2020-02, Vol.182 (2), p.418-426

2020

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Care for children with atopic dermatitis in the Netherlands during the COVID‐19 pandemic: Lessons from the first wave and implications for the future

Journal of dermatology, 2021-12, Vol.48 (12), p.1863-1870

2021

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COVID‐19 in patients with cutaneous immune‐mediated diseases in The Netherlands: real‐world observational data

Journal of the European Academy of Dermatology and Venereology, 2021-03, Vol.35 (3), p.e173-e176

2021

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Acute arthritis and arthralgia as an adverse drug reaction to dupilumab

Clinical and experimental dermatology, 2020-03, Vol.45 (2), p.262-263

2020

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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Factors affecting the mitotic stability of high‐copy‐number integration into the ribosomal DNA of Saccharomyces cerevisiae

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Termination of transcription by yeast RNA polymerase I

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Use of TaqI Digestion May Lead to Incorrect Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder

Enzymological versus DNA investigations in mitochondrial (encephalo‐)myopathies

Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations

Nadroparin or fondaparinux versus no thromboprophylaxis in patients immobilised in a below-knee plaster cast (PROTECT): A randomised controlled trial

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Enzymological versus DNA investigations in mitochondrial (encephalo-)-myopathies: Inherited metabolic disease and the brain

Clinical and histopathological characterization of paradoxical head and neck erythema in patients with atopic dermatitis treated with dupilumab: a case series

Effectiveness of dupilumab treatment in 95 patients with atopic dermatitis: daily practice data

Care for children with atopic dermatitis in the Netherlands during the COVID‐19 pandemic: Lessons from the first wave and implications for the future

COVID‐19 in patients with cutaneous immune‐mediated diseases in The Netherlands: real‐world observational data

Acute arthritis and arthralgia as an adverse drug reaction to dupilumab

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