Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

P2860

Q38631359-934F1F14-40C5-47D9-A08A-293593792843

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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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2016 nî lūn-bûn

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2016 թվականի հունվարին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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Analyses of Genotypes and Phen ...... parative Genomic Hybridization

@en

P1476

Analyses of Genotypes and Phen ...... parative Genomic Hybridization

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P2093

Hai-Rong Wu

http://www.w3.org/2001/XMLSchema#string

Hong Pan

http://www.w3.org/2001/XMLSchema#string

Lin Li

http://www.w3.org/2001/XMLSchema#string

Song-Tao Wang

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Wen-Xu Yang

http://www.w3.org/2001/XMLSchema#string

Xin-Hua Bao

http://www.w3.org/2001/XMLSchema#string

Yu Qi

http://www.w3.org/2001/XMLSchema#string

Yu-Wu Jiang

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P2860

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.

Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

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672-678

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scholarly article

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10.4103/0366-6999.177996

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English

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129

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P577

2016-01-01T00:00:00Z

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26960370

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4804413

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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

about

P2860

P2860

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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P1476

P2093

P2860

P304

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P407

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P577

P698

P932

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932