about
Calcium-sensing receptor stimulates Cl(-)- and SCFA-dependent but inhibits cAMP-dependent HCO3(-) secretion in colon.Williams-Beuren Syndrome: A Case Confirmed by Array-CGH MethodClinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family.Congenital cataract with LSS gene mutations: a new case report.First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.Rapid quantification of metabolic intermediates in blood by liquid chromatography-tandem mass spectrometry to investigate congenital lactic acidosis.Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects.Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatizationEarly prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysisDistinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature reviewA novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report
P50
Q35622544-5DE5AA19-8EBB-4C03-A971-461EF7AD5F7BQ35862006-8E9C55B4-1165-4053-8A9D-FE057BA52D7AQ40305756-F134E3D0-0E22-45AF-847B-872DEAEBE141Q47201190-276E068E-683D-4794-88D5-12A1F17B8FEBQ47671943-1A85200C-464D-4B26-B97E-A9A8A3DD6641Q51069233-972AF1A9-BC59-4E00-8139-6B3740D9846CQ51413788-AC5DF807-7992-49E6-91E0-C54400960AA9Q52699727-A0CAF570-9607-4038-AD31-A1B25351A553Q54680552-07D7F72E-DB3E-4AC0-A827-0A4D0AC55399Q87028122-646CFDD7-76F6-47A6-AE26-535267596CA4Q89388224-8C50A527-BE48-4FBD-AA0A-47F5C04421D4Q90114856-EE9E32D9-F96A-4AEF-A00B-B8CC86C73134Q91772392-E5E16F83-EB3D-4FC4-96F6-AADDB9ED2C6D
P50
description
researcher (ORCID 0000-0002-4330-5694)
@en
name
Li Liu
@en
type
label
Li Liu
@en
prefLabel
Li Liu
@en
P31
P496
0000-0002-4330-5694