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UnknownClinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.
Not available
S-EPMC7320544 | biostudies-literature
UnknownWhole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Not available
S-EPMC7819242 | biostudies-literature
UnknownIdentification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Not available
S-EPMC6751843 | biostudies-literature
UnknownUnraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands
Not available
S-EPMC12131354 | biostudies-literature
UnknownHow Experiences Affect Psychological Responses During Supervised Fasting: A Preliminary Study.
Not available
S-EPMC8170085 | biostudies-literature
UnknownMechanism and Pharmacodynamic Substance Basis of Raw and Wine-Processed Evodia rutaecarpa on Smooth Muscle Cells of Dysmenorrhea Mice
Not available
S-EPMC10250099 | biostudies-literature
UnknownProteomic analysis reveals chromatin remodeling as a potential therapeutical target in neuroblastoma.
Not available
S-EPMC11866834 | biostudies-literature
UnknownGender differences in the mental symptom network of high school students in Shanghai, China: a network analysis.
Not available
S-EPMC11453059 | biostudies-literature
ProteomicsHuman T21 Amniocyte samples LC-MS/MS
Amniocyte samples of T21 males, T21 females, CN males, and CN females were collected by amniocentesis. The quantitative value of the peptide corresponding to each sample was determined through quantitative analysis by mass spectrometry.
ORGANISM(S): Homo Sapiens 
2022-03-31 | PXD032883 |
ProteomicsThe mechanism of TRIM21 inhibiting the invasion and migration of ccRCC by stabilizing ASS1
Clear cell renal cell carcinoma (ccRCC) is characterized by its aggressive invasion and metastasis, posing significant clinical challenges. Understanding the molecular mechanisms underlying its progression is crucial for developing effective therapeutic strategies. The role of TRIM21 in regulating A...
ORGANISM(S): Homo Sapiens 
2024-08-13 | PXD054847 |
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