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Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

Clinical genetics, 2013-07, Vol.84 (1), p.20-30

2013

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Current status of treating neurodegenerative disease with induced pluripotent stem cells

Acta neurologica Scandinavica, 2017-01, Vol.135 (1), p.57-72

2017

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Immunolocalization of AQP9 in Liver, Epididymis, Testis, Spleen, and Brain

Biochemical and biophysical research communications, 2000-10, Vol.276 (3), p.1118-1128

2000

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Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

Clinical genetics, 2018-04, Vol.93 (4), p.860-869

2018

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JP-HHT phenotype in Danish patients with SMAD4 mutations

Clinical genetics, 2016-07, Vol.90 (1), p.55-62

2016

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Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis

Development (Cambridge), 2003-11, Vol.130 (21), p.5241-5255

2003

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Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]

Molecular genetics and metabolism, 2018-12, Vol.125 (4), p.361-361

2018

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Downregulation of aquaporin-2 parallels changes in renal water excretion in unilateral ureteral obstruction

American journal of physiology. Renal physiology, 1997-08, Vol.273 (2), p.213-F223

1997

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Side population cells in human and mouse epidermis lack stem cell characteristics

Experimental cell research, 2004-04, Vol.295 (1), p.79-90

2004

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Role of melanoma chondroitin sulphate proteoglycan in patterning stem cells in human interfollicular epidermis

Development (Cambridge), 2003-12, Vol.130 (24), p.6049-6063

2003

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Immunolocalization of aquaporin-8 in rat kidney, gastrointestinal tract, testis, and airways

American journal of physiology. Renal physiology, 2001-12, Vol.281 (6), p.F1047-F1057

2001

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Transgene expression in human epidermal keratinocytes: cell cycle arrest of productively transfected cells

Experimental dermatology, 2000-08, Vol.9 (4), p.298-310

2000

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Functional Requirement of Aquaporin-5 in Plasma Membranes of Sweat Glands

Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (1), p.511-516

2002

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Modulation of Keratinocyte Gene Expression and Differentiation by PPAR-Selective Ligands and Tetradecylthioacetic Acid

Journal of investigative dermatology, 2001-05, Vol.116 (5), p.702-712

2001

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A new control method for 400-Hz ground power units for airplanes

IEEE transactions on industry applications, 2000-01, Vol.36 (1), p.180-187

2000

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Recombinant expression of human mannan-binding lectin

International immunopharmacology, 2001-04, Vol.1 (4), p.677-687

2001

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Correction of Steroid Sulfatase Deficiency by Gene Transfer into Basal Cells of Tissue-Cultured Epidermis from Patients with Recessive X-Linked Ichthyosis

Experimental cell research, 1993-12, Vol.209 (2), p.392-397

1993

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A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)

American journal of human genetics, 1993-09, Vol.53 (3), p.730-739

1993

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Tail-Vein Injection of Mannan-Binding Lectin DNA Leads to High Expression Levels of Multimeric Protein in Liver

Molecular therapy, 2001-06, Vol.3 (6), p.867-874

2001

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A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

Kidney international, 1995-01, Vol.47 (1), p.327-332

1995

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Rapid Degradation of Short-chain Acyl-CoA Dehydrogenase Variants with Temperature-sensitive Folding Defects Occurs after Import into Mitochondria

The Journal of biological chemistry, 1998-05, Vol.273 (21), p.13065-13071

1998

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Cutaneous gene therapy--an update

Histochemistry and cell biology, 2001-01, Vol.115 (1), p.73-82

2001

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A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry

Clinical epidemiology, 2021-01, Vol.13, p.113-120

2021

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STATE-OF-THE-ART OF GENETIC TESTING, COUNSELLING AND TRAINING IN PSYCHIATRY IN EUROPE: OPPORTUNITIES AND PITFALLS OF THE IMPLEMENTATION OF PSYCHIATRIC GENETICS IN MEDICAL PRACTICE

EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2022, Vol.63, p.e314-e315

2022

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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

European journal of medical genetics, 2023-08, Vol.66 (8), p.104805-104805, Article 104805

2023

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Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

Current status of treating neurodegenerative disease with induced pluripotent stem cells

Immunolocalization of AQP9 in Liver, Epididymis, Testis, Spleen, and Brain

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

JP-HHT phenotype in Danish patients with SMAD4 mutations

Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis

Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]

Downregulation of aquaporin-2 parallels changes in renal water excretion in unilateral ureteral obstruction

Side population cells in human and mouse epidermis lack stem cell characteristics

Role of melanoma chondroitin sulphate proteoglycan in patterning stem cells in human interfollicular epidermis

Immunolocalization of aquaporin-8 in rat kidney, gastrointestinal tract, testis, and airways

Transgene expression in human epidermal keratinocytes: cell cycle arrest of productively transfected cells

Functional Requirement of Aquaporin-5 in Plasma Membranes of Sweat Glands

Modulation of Keratinocyte Gene Expression and Differentiation by PPAR-Selective Ligands and Tetradecylthioacetic Acid

A new control method for 400-Hz ground power units for airplanes

Recombinant expression of human mannan-binding lectin

Correction of Steroid Sulfatase Deficiency by Gene Transfer into Basal Cells of Tissue-Cultured Epidermis from Patients with Recessive X-Linked Ichthyosis

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)

Tail-Vein Injection of Mannan-Binding Lectin DNA Leads to High Expression Levels of Multimeric Protein in Liver

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

Rapid Degradation of Short-chain Acyl-CoA Dehydrogenase Variants with Temperature-sensitive Folding Defects Occurs after Import into Mitochondria

Cutaneous gene therapy--an update

A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry

STATE-OF-THE-ART OF GENETIC TESTING, COUNSELLING AND TRAINING IN PSYCHIATRY IN EUROPE: OPPORTUNITIES AND PITFALLS OF THE IMPLEMENTATION OF PSYCHIATRIC GENETICS IN MEDICAL PRACTICE

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

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