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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219

2019

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Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

Nature genetics, 2016-12, Vol.48 (12), p.1508-1516

2016

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Corn bracts loading copper sulfide for rapid adsorption of Hg(II) and sequential efficient reuse as a photocatalyst

Water science and technology, 2021-06, Vol.83 (12), p.2921-2930

2021

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Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type

Journal of investigative dermatology, 2014-01, Vol.134 (1), p.284-287

2014

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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Human molecular genetics, 2015-01, Vol.24 (1), p.243-250

2015

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Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

American journal of human genetics, 2012-11, Vol.91 (5), p.906-911

2012

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Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

American journal of human genetics, 2015-03, Vol.96 (3), p.440-447

2015

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Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree

Genetic testing and molecular biomarkers, 2017-10, Vol.21 (10), p.580-585

2017

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Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas

PloS one, 2013-08, Vol.8 (8), p.e72316-e72316

2013

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CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies

Journal of allergy and clinical immunology, 2014-03, Vol.133 (3), p.905-908.e3

2014

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Neurology, 2014-11, Vol.83 (21), p.1898-1905

2014

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A high-resolution haplotype-resolved Reference panel constructed from the China Kadoorie Biobank Study

Nucleic acids research, 2023-11, Vol.51 (21), p.11770-11782

2023

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Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis

Gene, 2015-07, Vol.566 (1), p.84-88

2015

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FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome

Oncotarget, 2017-10, Vol.8 (49), p.86718-86725

2017

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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Human molecular genetics, 2015-11, Vol.24 (22), p.6564-6564

2015

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Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Functional & integrative genomics, 2016-01, Vol.16 (1), p.13-17

2016

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CARD9mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies

Journal of allergy and clinical immunology, 2014-03, Vol.133 (3), p.905

2014

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CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH 17 cell deficiencies

Journal of allergy and clinical immunology, 2013, Vol.133 (3), p.905-908.e3

2013

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Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas: e72316

PloS one, 2013-08, Vol.8 (8)

2013

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Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type

The Journal of investigative dermatology, 2014, Vol.134 (1), p.284-287

2014

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Chromatin analysis in human early development reveals epigenetic transition during ZGA

Nature (London), 2018-05, Vol.557 (7704), p.256-260

2018

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Content Collaborative Caching Strategy in the Edge Maintenance of Communication Network: A Joint Download Delay and Energy Consumption Method

IEEE transactions on parallel and distributed systems, 2022-12, Vol.33 (12), p.4148-4163

2022

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Effects of shade treatments on the photosynthetic capacity, chlorophyll fluorescence, and chlorophyll content of Tetrastigma hemsleyanum Diels et Gilg

Environmental and experimental botany, 2009-03, Vol.65 (2), p.177-182

2009

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Optimizing zeolite stabilized Pt-Zn catalysts for propane dehydrogenation

Journal of energy chemistry, 2021-06, Vol.57, p.92-98

2021

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AHL-mediated quorum sensing to regulate bacterial substance and energy metabolism: A review

Microbiological research, 2022-09, Vol.262, p.127102-127102, Article 127102

2022

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

Corn bracts loading copper sulfide for rapid adsorption of Hg(II) and sequential efficient reuse as a photocatalyst

Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

A high-resolution haplotype-resolved Reference panel constructed from the China Kadoorie Biobank Study

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

CARD9mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH 17 cell deficiencies

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas: e72316

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type

Chromatin analysis in human early development reveals epigenetic transition during ZGA

Content Collaborative Caching Strategy in the Edge Maintenance of Communication Network: A Joint Download Delay and Energy Consumption Method

Effects of shade treatments on the photosynthetic capacity, chlorophyll fluorescence, and chlorophyll content of Tetrastigma hemsleyanum Diels et Gilg

Optimizing zeolite stabilized Pt-Zn catalysts for propane dehydrogenation

AHL-mediated quorum sensing to regulate bacterial substance and energy metabolism: A review

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