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γ-Secretase Gene Mutations in Familial Acne Inversa

Science (American Association for the Advancement of Science), 2010-11, Vol.330 (6007), p.1065-1065

2010

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South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

Journal of allergy and clinical immunology, 2014-01, Vol.133 (1), p.280-282.e2

2014

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P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting

Genetics in Medicine Open, 2024, Vol.2, p.101634

2024

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Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

American journal of human genetics, 2009-06, Vol.84 (6), p.807-813

2009

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Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

American journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.337-342

2011

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Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

Journal of the American Academy of Dermatology, 2011-04, Vol.64 (4), p.e45-e50

2011

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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

Journal of human genetics, 2009-07, Vol.54 (7), p.422-425

2009

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Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

Experimental dermatology, 2013-06, Vol.22 (6), p.392-395

2013

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Strong association of the SNP rs17822931 with wet earwax and bromhidrosis in a Chinese family

Journal of genetics, 2013-08, Vol.92 (2), p.289-291

2013

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[gamma]-Secretase Gene Mutations in Familial Acne Inversa

Science (American Association for the Advancement of Science), 2010-11, Vol.330 (6007), p.1065

2010

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g-Secretase Gene Mutations in Familial Acne Inversa

Science (American Association for the Advancement of Science), 2010-11, Vol.330 (6007), p.1065-1065

2010

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Loss-of-function mutations of an inhibitory upstream orf in the human hairless transcript cause marie unna hereditary hypotrichosis

Nature genetics, 2009-06, Vol.41 (6), p.762

2009

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Research on Virtual Coupled Train Control Method Based on GPC & VAPF

Chinese Journal of Electronics, 2022-09, Vol.31 (5), p.897-905

2022

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Thermal-economic analysis of a novel solar power tower system with CO2-based mixtures at typical days of four seasons

Energy (Oxford), 2023-08, Vol.276, p.127602, Article 127602

2023

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Development of green data center by configuring photovoltaic power generation and compressed air energy storage systems

Energy (Oxford), 2024-04, Vol.292, p.130516, Article 130516

2024

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Low temperature-induced DNA hypermethylation attenuates expression of RhAG, an AGAMOUS homolog, and increases petal number in rose (Rosa hybrida)

BMC plant biology, 2015-10, Vol.15 (1), p.237-237, Article 237

2015

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GOx-encapsulated iron-phenolic networks power catalytic cascade to eradicate bacterial biofilms

Journal of controlled release, 2022-12, Vol.352, p.1-14

2022

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Ferulic acid inhibits bovine endometrial epithelial cells against LPS-induced inflammation via suppressing NK-κB and MAPK pathway

Research in veterinary science, 2019-10, Vol.126, p.164-169

2019

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Preliminary design and optimization of a solar-driven combined cooling and power system for a data center

Energy conversion and management. X, 2023-10, Vol.20, p.100409, Article 100409

2023

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Transcranial Direct Current Stimulation Alleviates Neurovascular Unit Dysfunction in Mice With Preclinical Alzheimer's Disease

Frontiers in aging neuroscience, 2022-04, Vol.14, p.857415-857415

2022

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Effects of exercise, metformin, and combination treatments on type 2 diabetic mellitus-induced muscle atrophy in db/db mice: Crosstalk between autophagy and the proteasome

Journal of physiology and biochemistry, 2024-02, Vol.80 (1), p.235-247

2024

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Current status of thermodynamic electricity storage: Principle, structure, storage device and demonstration

Journal of energy storage, 2024-03, Vol.80, p.110347, Article 110347

2024

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γ-Secretase Gene Mutations in Familial Acne Inversa

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting

Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Strong association of the SNP rs17822931 with wet earwax and bromhidrosis in a Chinese family

[gamma]-Secretase Gene Mutations in Familial Acne Inversa

g-Secretase Gene Mutations in Familial Acne Inversa

Loss-of-function mutations of an inhibitory upstream orf in the human hairless transcript cause marie unna hereditary hypotrichosis

Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Research on Virtual Coupled Train Control Method Based on GPC & VAPF

Thermal-economic analysis of a novel solar power tower system with CO2-based mixtures at typical days of four seasons

Development of green data center by configuring photovoltaic power generation and compressed air energy storage systems

Low temperature-induced DNA hypermethylation attenuates expression of RhAG, an AGAMOUS homolog, and increases petal number in rose (Rosa hybrida)

GOx-encapsulated iron-phenolic networks power catalytic cascade to eradicate bacterial biofilms

Ferulic acid inhibits bovine endometrial epithelial cells against LPS-induced inflammation via suppressing NK-κB and MAPK pathway

Preliminary design and optimization of a solar-driven combined cooling and power system for a data center

Transcranial Direct Current Stimulation Alleviates Neurovascular Unit Dysfunction in Mice With Preclinical Alzheimer's Disease

Effects of exercise, metformin, and combination treatments on type 2 diabetic mellitus-induced muscle atrophy in db/db mice: Crosstalk between autophagy and the proteasome

Current status of thermodynamic electricity storage: Principle, structure, storage device and demonstration

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