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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype―phenotype correlation

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.330-335

2010

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ASSOCIATION BETWEEN MATERNAL BODY MASS INDEX AND WEIGHT GAIN WITH LOW BIRTH WEIGHT IN EASTERN THAILAND

Southeast Asian journal of tropical medicine and public health, 2015-11, Vol.46 (6), p.1085-1091

2015

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification

Asian biomedicine, 2015-08, Vol.9 (4), p.501-509

2015

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Prenatal Diagnosis of Complete Trisomy 9 With a Novel Sonographic Finding of Heart Calcification

Journal of ultrasound in medicine, 2014-10, Vol.33 (10), p.1871-1873

2014

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De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.271-276

2007

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Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

European journal of human genetics : EJHG, 2012-08, Vol.20 (9), p.1010-1010

2012

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Mutation screening of the Aristaless-related homeobox ( ARX ) gene in Thai pediatric patients with delayed development: First report from Thailand

European journal of medical genetics, 2007-09, Vol.50 (5), p.346-354

2007

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Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

American journal of perinatology, 2006, Vol.23 (2), p.131-136

2006

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.1010-1010

2012

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Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

Biochemical and biophysical research communications, 2004-12, Vol.325 (1), p.124-132

2004

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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

PathoGenetics, 2010-02, Vol.3 (1), p.2-2, Article 2

2010

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Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

American journal of perinatology, 2006-02, Vol.16 (2), p.131-136

2006

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Characterization of the Treacher Collins Syndrome (TCOF1) gene and its gene product, Treacle

Rujirabanjerd, Sinitdhorn

2003

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Prenatal diagnosis of complete trisomy 9 with a novel sonographic finding of heart calcification

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2014, Vol.33 (10), p.1871-1873

2014

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De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

American Journal of Medical Genetics Part A, 2007, Vol.143A (3), p.271-276

2007

Volltextzugriff (PDF)

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype―phenotype correlation

ASSOCIATION BETWEEN MATERNAL BODY MASS INDEX AND WEIGHT GAIN WITH LOW BIRTH WEIGHT IN EASTERN THAILAND

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification

Prenatal Diagnosis of Complete Trisomy 9 With a Novel Sonographic Finding of Heart Calcification

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Mutation screening of the Aristaless-related homeobox ( ARX ) gene in Thai pediatric patients with delayed development: First report from Thailand

Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

Characterization of the Treacher Collins Syndrome (TCOF1) gene and its gene product, Treacle

Prenatal diagnosis of complete trisomy 9 with a novel sonographic finding of heart calcification

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

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