CD45-deficient severe combined immunodeficiency caused by uniparental disomy. - Test2 - elhamkhani - TriplyDB

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

http://www.wikidata.org/entity/Q36068963

about

BioAssemblyModeler (BAM): user-friendly homology modeling of protein homo- and heterooligomers Biological function derived from predicted structures in CASP11.Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells.Improved panels for clinical immune phenotyping: Utilization of the violet laser.Post-transplantation B cell function in different molecular types of SCID Genomic imbalances in peripheral blood confirm the diagnosis of myelodysplastic syndrome in a patient presenting with non-immune hemolytic anemia.Chromothripsis in a Case of TP53-Deficient Chronic Lymphocytic Leukemia New genetic discoveries and primary immune deficiencies.Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Genomic Copy Number Alterations in Renal Cell Carcinoma with Sarcomatoid Features LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

P2860

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P2860

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

http://www.wikidata.org/entity/Q36068963

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@ast

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@en

type

label

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@ast

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@en

prefLabel

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@ast

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@en

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P356

PNAS.1202249109

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

@en

P2093

Biao Luo

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

David L Wiest

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

Jianming Pei

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

Jinwook Shin

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

Joseph L Roberts

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

Joseph R Testa

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

Qiong Wei

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

Rebecca H Buckley

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

Roberta E Parrott

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

Suraj Peri

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

P2860

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

The Universal Protein Resource (UniProt)

MUSCLE: multiple sequence alignment with high accuracy and high throughput

A map of human genome variation from population-scale sequencing

The Pfam protein families database

Fast and accurate short read alignment with Burrows-Wheeler transform

Uniparental disomy as a mechanism for human genetic disease

A highly sensitive selection method for directed evolution of homing endonucleases.

Galectin-8-N-domain Recognition Mechanism for Sialylated and Sulfated Glycans

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

P304

10456-10461

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P31

scholarly article

P356

10.1073/PNAS.1202249109

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P407

P433

26

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P478

109

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P50

Roland Dunbrack

P577

2012-06-11T00:00:00Z

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

P5875

225293788

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P698

22689986

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P932

3387083

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