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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Journal of medical genetics, 2010-09, Vol.47 (9), p.608-615

2010

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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Journal of neurology, neurosurgery and psychiatry, 2005-04, Vol.76 (4), p.592-595

2005

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Screening patients referred to a metabolic clinic for lysosomal storage disorders

Journal of medical genetics, 2011-06, Vol.48 (6), p.422-425

2011

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Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Current biology, 1995-04, Vol.5 (4), p.432-440

1995

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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

The Journal of cell biology, 1993-05, Vol.121 (4), p.855-865

1993

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Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

Current biology, 1995-06, Vol.5 (6), p.643-650

1995

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The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat

The Journal of cell biology, 1990-02, Vol.110 (2), p.427-436

1990

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Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.542-544

1992

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Clustered Arrangement of Keratin Intermediate Filament Genes

Proceedings of the National Academy of Sciences - PNAS, 1986-07, Vol.83 (14), p.5048-5052

1986

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The hedgehog gene family in Drosophila and vertebrate development

Development (Cambridge), 1994, Vol.1994 (Supplement), p.43-51

1994

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Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism

Developmental dynamics, 2004-04, Vol.229 (4), p.780-790

2004

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Trichohyalin and Matrix Proteins

Annals of the New York Academy of Sciences, 1991-12, Vol.642 (1), p.64-80

1991

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Influence of water availability in the distributions of branched glycerol dialkyl glycerol tetraether in soils of the Iberian Peninsula

Biogeosciences, 2014-05, Vol.11 (10), p.2571-2581

2014

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Of fruits and fats: high-sugar diets restore fatty acid profiles in the white adipose tissue of captive dwarf lemurs

Proceedings of the Royal Society. B, Biological sciences, 2022-06, Vol.289 (1976), p.20220598-20220598

2022

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Absence of photophysiological response to iron addition in autumn phytoplankton in the Antarctic sea-ice zone

Biogeosciences, 2023-07, Vol.20 (14), p.3073-3091

2023

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Bioactive Trace Metals and Their Isotopes as Paleoproductivity Proxies: An Assessment Using GEOTRACES‐Era Data

Global biogeochemical cycles, 2021-11, Vol.35 (11), p.n/a

2021

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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.173-173, Article 173

2014

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West German Study PlanB Trial: Adjuvant Four Cycles of Epirubicin and Cyclophosphamide Plus Docetaxel Versus Six Cycles of Docetaxel and Cyclophosphamide in HER2-Negative Early Breast Cancer

Journal of clinical oncology, 2019-04, Vol.37 (10), p.799-808

2019

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HTS CroCo - a Strand for High Direct Current Applications

Journal of physics. Conference series, 2020-07, Vol.1590 (1), p.12020

2020

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Development and test of a 35 kA - HTS CroCo cable demonstrator

Journal of physics. Conference series, 2020-06, Vol.1559 (1), p.12082

2020

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407P Palbociclib plus endocrine therapy in HR+/HER2- advanced breast cancer patients: Interim results of the PERFORM study

Annals of oncology, 2023-10, Vol.34, p.S353-S354

2023

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Epigenetic age acceleration as a biomarker for impaired cognitive abilities in adulthood following early life adversity and psychiatric disorders

Neurobiology of stress, 2023-11, Vol.27, p.100577-100577, Article 100577

2023

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Mucosal FOXP3+ regulatory T cells are numerically deficient in acute and chronic GvHD

Blood, 2006-02, Vol.107 (4), p.1717-1723

2006

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49P EGFR exon 20 insertion mutations in patients with locally advanced or metastatic NSCLC in the German prospective, CRISP Registry real-world cohort (AIO-TRK-0315)

Annals of oncology, 2022-04, Vol.33, p.S54-S55

2022

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Screening patients referred to a metabolic clinic for lysosomal storage disorders

Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat

Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes

Clustered Arrangement of Keratin Intermediate Filament Genes

The hedgehog gene family in Drosophila and vertebrate development

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism

Trichohyalin and Matrix Proteins

Influence of water availability in the distributions of branched glycerol dialkyl glycerol tetraether in soils of the Iberian Peninsula

Of fruits and fats: high-sugar diets restore fatty acid profiles in the white adipose tissue of captive dwarf lemurs

Absence of photophysiological response to iron addition in autumn phytoplankton in the Antarctic sea-ice zone

Bioactive Trace Metals and Their Isotopes as Paleoproductivity Proxies: An Assessment Using GEOTRACES‐Era Data

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

West German Study PlanB Trial: Adjuvant Four Cycles of Epirubicin and Cyclophosphamide Plus Docetaxel Versus Six Cycles of Docetaxel and Cyclophosphamide in HER2-Negative Early Breast Cancer

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

HTS CroCo - a Strand for High Direct Current Applications

Development and test of a 35 kA - HTS CroCo cable demonstrator

407P Palbociclib plus endocrine therapy in HR+/HER2- advanced breast cancer patients: Interim results of the PERFORM study

Epigenetic age acceleration as a biomarker for impaired cognitive abilities in adulthood following early life adversity and psychiatric disorders

Mucosal FOXP3+ regulatory T cells are numerically deficient in acute and chronic GvHD

49P EGFR exon 20 insertion mutations in patients with locally advanced or metastatic NSCLC in the German prospective, CRISP Registry real-world cohort (AIO-TRK-0315)

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