CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
about
BioAssemblyModeler (BAM): user-friendly homology modeling of protein homo- and heterooligomersBiological 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 SCIDGenomic 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 LeukemiaNew 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 FeaturesLRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
P2860
Q28658281-5B3D831F-3D0B-44C3-9669-E1C813936146Q30388103-66160EF7-D1A2-4DED-A82F-5B5B5307AE91Q35609938-8D7640B5-9830-44A6-980D-C8597B7BF083Q35685774-0091E576-083B-4173-BAD4-85FD5EFC2D5FQ36356747-66E2D5FA-4ACB-4289-8C15-8471562CF9DEQ36368756-FDF4E63F-C6E8-4BD4-88F4-D1A912FCF1BBQ36546267-61FC6366-DF21-46AB-8DAB-37BCE8B0CCFEQ36959939-353542E0-C9B5-4B25-9EAF-0A4769C82A61Q37074716-80BF145A-CA1C-496D-B88D-6E736664932BQ38122073-9C99208D-02E4-4DEC-92E3-4A4940A29BA9Q38207914-4BF8B8C0-D669-4019-A2C3-359F5817E9B2Q38939134-75C848EA-2BB0-4349-A5C2-AC1337EA49CAQ58553732-5CD5713D-A0A1-4C20-89BD-D16B19A40009
P2860
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
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
P2093
P2860
P356
P1476
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
@en
P2093
David L Wiest
Jianming Pei
Jinwook Shin
Joseph L Roberts
Joseph R Testa
Rebecca H Buckley
Roberta E Parrott
Suraj Peri
P2860
P304
10456-10461
P356
10.1073/PNAS.1202249109
P407
P577
2012-06-11T00:00:00Z