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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

British journal of dermatology (1951), 2016-02, Vol.174 (2), p.444-448

2016

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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.445-455

2017

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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Acta dermato-venereologica, 2016-01, Vol.96 (4), p.473-478

2016

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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

Clinical genetics, 2011-08, Vol.80 (2), p.148-160

2011

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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1402-1404

2009

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Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

British journal of dermatology (1951), 2016-05, Vol.174 (5), p.1152-1156

2016

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White sponge nevus - a rare autosomal dominant keratinopathy

Klinische Padiatrie, 2014-11, Vol.226 (6-7), p.375

2014

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White Sponge Nevus – A Rare Autosomal Dominant Keratinopathy

Klinische Pädiatrie, 2014-05, Vol.226 (6/07), p.375-376

2014

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Klinik und Genetik der spastischen Spinalparalysen

Medizinische Genetik, 2013-06, Vol.25 (2), p.249-257

2013

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Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris

Acta dermato-venereologica, 2016-11, Vol.96 (7), p.989-990

2016

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Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case‐Control Association Study

Clinical implant dentistry and related research, 2018-10, Vol.20 (5), p.902-902

2018

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Large deletions in the NSDHL gene in two patients with CHILD syndrome

Acta dermato-venereologica, 2015-11, Vol.95 (8), p.1007-1008

2015

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Strongly enhanced sensitivities of CMOS compatible plasmonic titanium nitride nanohole arrays for refractive index sensing under oblique incidence

Optics express, 2023-05, Vol.31 (11), p.17389-17407

2023

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Erratum

Acta dermato-venereologica, 2016, Vol.96 (5), p.720

2016

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Klinik und Genetik der spastischen Spinalparalysen

Medizinische Genetik, 2013-06, Vol.102 (2), p.249-257

2013

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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients: EXOME SEQUENCING

Clinical genetics, 2011, Vol.80 (2), p.148-160

2011

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High throughput genotyping: microarray-based resequencing for autosomal-dominant hereditary spastic paraplegia

Aktuelle Neurologie, 2009, Vol.36 (S 02)

2009

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Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

The British journal of dermatology, 2016, Vol.174 (5), p.1152-1156

2016

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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

The British journal of dermatology, 2016, Vol.174 (2), p.444-448

2016

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Advanced capabilities for materials modelling with Quantum ESPRESSO

Journal of physics. Condensed matter, 2017-11, Vol.29 (46), p.465901

2017

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Advanced capabilities for materials modelling with Quantum ESPRESSO

Journal of physics. Condensed matter, 2017-11, Vol.29 (46), p.465901-465901

2017

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Nanostructuring Mixed-Dimensional Perovskites: A Route Toward Tunable, Efficient Photovoltaics

Advanced materials (Weinheim), 2016-05, Vol.28 (19), p.3653-3661

2016

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Long-term research challenges in wind energy – a research agenda by the European Academy of Wind Energy

Wind Energy Science, 2016-02, Vol.1 (1), p.1-39

2016

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Pyogranulomatous enteritis and mesenteric lymphadenitis in an adult llama caused by Rhodococcus equi carrying virulence-associated protein A gene

Journal of veterinary diagnostic investigation, 2019-09, Vol.31 (5), p.747-751

2019

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Reproducibility in density functional theory calculations of solids

Science (American Association for the Advancement of Science), 2016-03, Vol.351 (6280), p.1415-1415

2016

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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

White sponge nevus - a rare autosomal dominant keratinopathy

White Sponge Nevus – A Rare Autosomal Dominant Keratinopathy

Klinik und Genetik der spastischen Spinalparalysen

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris

Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case‐Control Association Study

Large deletions in the NSDHL gene in two patients with CHILD syndrome

Strongly enhanced sensitivities of CMOS compatible plasmonic titanium nitride nanohole arrays for refractive index sensing under oblique incidence

Erratum

Klinik und Genetik der spastischen Spinalparalysen

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients: EXOME SEQUENCING

High throughput genotyping: microarray-based resequencing for autosomal-dominant hereditary spastic paraplegia

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Advanced capabilities for materials modelling with Quantum ESPRESSO

Advanced capabilities for materials modelling with Quantum ESPRESSO

Nanostructuring Mixed-Dimensional Perovskites: A Route Toward Tunable, Efficient Photovoltaics

Long-term research challenges in wind energy – a research agenda by the European Academy of Wind Energy

Pyogranulomatous enteritis and mesenteric lymphadenitis in an adult llama caused by Rhodococcus equi carrying virulence-associated protein A gene

Reproducibility in density functional theory calculations of solids

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