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UnknownA novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Not available
S-EPMC7057093 | biostudies-literature
UnknownDetection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.
Not available
S-EPMC7443528 | biostudies-literature
UnknownDiagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
Not available
S-EPMC6276521 | biostudies-literature
UnknownIn situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs.
Not available
S-EPMC4705535 | biostudies-literature
UnknownTwo novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders
Not available
S-EPMC12222124 | biostudies-literature
UnknownOligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.
Not available
S-EPMC11733205 | biostudies-literature
TranscriptomicsTranslatome of A549, H1299 and HBE cells
We performed translatome and transcriptome sequencing of A549, H1299 and HBE cells and analyzed the translation ratio (TR) of all genes Total RNA and ribosome-bound RNA were extracted from A549, H1299 and HBE cells, and the polyA+ mRNA was sequenced using Illumina GAIIx and HiSeq-2000. The reads wer...
ORGANISM(S): Homo sapiens 
2013-03-05 | E-GEOD-42006 | biostudies-arrayexpress
TranscriptomicsTranscriptome and Translatome Profiling of Caco-2 cells
This experiment performed RNA-seq of transcriptome and translatome (translating mRNA) of Caco-2 cells We extracted transcriptome and translatome from Caco-2 cells and deep sequenced them
ORGANISM(S): Homo sapiens 
2014-02-18 | E-GEOD-48603 | biostudies-arrayexpress
UnknownGenetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Not available
S-EPMC12866592 | biostudies-literature
ProteomicsTargeting RANKL-Independent Osteoclastogenesis Overcomes Denosumab Resistance in ER+ Breast Cancer Bone Metastasis
Bone metastasis remains a major cause of morbidity in ER+ breast cancer, with RANKL inhibitor resistance emerging as a critical clinical challenge. Nearly 40% of patients develop progressive skeletal lesions despite denosumab therapy, highlighting an urgent need to identify resistance mechanisms and...
ORGANISM(S): Homo Sapiens 
2026-01-29 | PXD073739 |
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