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Association between genetic variation of CACNA1H and childhood absence epilepsy

Annals of neurology, 2003-08, Vol.54 (2), p.239-243

2003

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Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.361-371

2007

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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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Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

Journal of human genetics, 2008-04, Vol.53 (4), p.368-374

2008

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The “negative” impact of a subgaleal drain: Post-cranioplasty negative pressure subgaleal drain-induced ascending transtentorial herniation

Asian journal of neurosurgery, 2019-01, Vol.14 (1), p.256-261

2019

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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

Human genetics, 2006-09, Vol.120 (2), p.238-242

2006

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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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PROSPECT OF MEDICAL GENETICS IN CHINA FROM A HISTORICAL POINT OF VIEW

Chinese medical sciences journal, 2008-06, Vol.23 (2), p.65-67

Lo, Wilson H.Y.

2008

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Novel Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) in Chinese Families with Dyschromatosis Symmetrica Hereditaria

Journal of investigative dermatology, 2004-04, Vol.122 (4), p.896-899

2004

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DSPP mutation in dentinogenesis imperfecta Shields type II

Nature genetics, 2001-02, Vol.27 (2), p.151-152

2001

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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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Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.162-166

2002

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Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3

Human genetics, 1997-10, Vol.100 (5-6), p.620-623

1997

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Chinese Geneticists Are Far from Eugenics Movement

American journal of human genetics, 1999-10, Vol.65 (4), p.1199-1199

1999

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A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family

Zhong hua yi xue za zhi, 2006-03, Vol.86 (10), p.652-658

2006

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A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2

Zhonghua er ke za zhi, 2004-10, Vol.42 (10), p.759

2004

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HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family

Zhonghua yi xue yi chuan xue za zhi, 2005-02, Vol.22 (1), p.5

2005

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The "Negative" Impact of a Subgaleal Drain: Post-cranioplasty Negative Pressure Subgaleal Drain-induced Ascending Transtentorial Herniation

Asian journal of neurosurgery, 2019, Vol.14 (1), p.256-261

2019

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A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I

Zhong hua yi xue za zhi, 2004-08, Vol.84 (16), p.1344-1347

2004

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Founder Effect of a Prevalent Phenylketonuria Mutation in the Oriental Population

Proceedings of the National Academy of Sciences - PNAS, 1991-03, Vol.88 (6), p.2146-2150

1991

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Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1

Biochimica et biophysica acta, 2002-08, Vol.1577 (1), p.121-125

2002

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Association between genetic variation of CACNA1H and childhood absence epilepsy

Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome

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

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

The “negative” impact of a subgaleal drain: Post-cranioplasty negative pressure subgaleal drain-induced ascending transtentorial herniation

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

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

PROSPECT OF MEDICAL GENETICS IN CHINA FROM A HISTORICAL POINT OF VIEW

Novel Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) in Chinese Families with Dyschromatosis Symmetrica Hereditaria

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

DSPP mutation in dentinogenesis imperfecta Shields type II

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

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred

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

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

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3

Chinese Geneticists Are Far from Eugenics Movement

A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family

A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2

HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family

The "Negative" Impact of a Subgaleal Drain: Post-cranioplasty Negative Pressure Subgaleal Drain-induced Ascending Transtentorial Herniation

A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I

Founder Effect of a Prevalent Phenylketonuria Mutation in the Oriental Population

Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1

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