Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]
Hum GenomicsXia Y, Ma Y.
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From Thanatos to transcription: the emerging biology of THAP proteins. [PDF]
Cell Mol Life SciRampal B +4 more
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Identification and validation of crotonylation-related diagnostic markers for lung adenocarcinoma via weighted correlation network analysis and machine learning. [PDF]
Transl Lung Cancer ResHu B +11 more
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Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]
Genes (Basel)Michieletto P +5 more
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A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment. [PDF]
Medicine (Baltimore)Wang J, Liu L, Wang H.
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Investigation on MMACHC-R161Q pathological mutant from cblC disease
Longo, L., Tutone, M.
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Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI. [PDF]
Front RadiolRan Y +5 more
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Correction: Chemoresistance mechanisms to 5-Fluorouracil and reversal strategies in lung and breast cancer. [PDF]
Sci RepZhong C +9 more
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Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension. [PDF]
Orphanet J Rare DisGrynblat J, Coulet F, Montani D.
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A Fragile Protein Strengthened by Vitamin Intake, a Simulation Study of the Mmachc
Lisa Longo +6 more
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