about
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.Investigation of anti-cancer mechanisms by comparative analysis of naked mole rat and rat.The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.BRAF gene: From human cancers to developmental syndromes.Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Genetics of Short Stature.Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome.
P2860
Q35079992-6C81DC8A-3959-4BC9-88B3-F4BDC9212067Q35102038-9837E16B-175A-4211-9252-141171363C8CQ35118478-126125C7-2D2A-4735-A2A5-214103B3A35EQ35802430-036C9D88-444A-49D3-9FA3-C46259449C9FQ36000046-A25418C3-23AC-4C88-9063-2601670ECCC6Q37287463-3073BC2D-37C1-4ED4-92AB-EAED88964BA6Q37418909-3C05E0B4-3CF2-4E85-9670-3D0385F2890EQ39286284-61C95092-44CB-4308-A627-1261A8121CDEQ52663753-638E520E-F939-4921-B1AB-39ED7FDB3C66Q53075038-74AEA8E2-8CE0-47FD-ACE4-6441D1D61587
P2860
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
LEOPARD Syndrome: Clinical Features and Gene Mutations.
@en
type
label
LEOPARD Syndrome: Clinical Features and Gene Mutations.
@en
prefLabel
LEOPARD Syndrome: Clinical Features and Gene Mutations.
@en
P2860
P356
P1476
LEOPARD Syndrome: Clinical Features and Gene Mutations.
@en
P2093
E Martínez-Quintana
F Rodríguez-González
P2860
P304
P356
10.1159/000342251
P577
2012-08-29T00:00:00Z