#MonogenicDisorders - Twitter Hashtag

10 months ago

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA. #cfDNA #MonogenicDisorders #PrenatalDiagnosis @GenomeMedicine https://t.co/350nav0nsO

jsantoyo's tweet photo. Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA. #cfDNA #MonogenicDisorders #PrenatalDiagnosis @GenomeMedicine
https://t.co/350nav0nsO https://t.co/MFSlOZGRmy

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The Journal of Molecular Diagnostics @JMDiagn

over 2 years ago

The April issue of @JMDiagn is now live! Full issue: https://t.co/fwyjM63UaL #SerousCarcinoma #monogenicdisorders #NextGenSeq #CNV #transcriptome

JMDiagn's tweet photo. The April issue of @JMDiagn is now live!

Full issue: https://t.co/fwyjM63UaL

#SerousCarcinoma #monogenicdisorders #NextGenSeq #CNV #transcriptome https://t.co/yd4zgES9sX

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Nature Communications @NatureComms

almost 4 years ago

Diseases on the X chromosome can be challenging to identify. Here, Leitão et al. use features of known disease genes and machine learning to predict genes associated with disorders on this chromosome. @ChristelDepienn #MonogenicDisorders #MorbidGene https://t.co/bVVRXFTIRC

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seha @sehasaygili

almost 4 years ago

A letter to the editor to “The genetic basis of congenital anomalies of the kidney and urinary tract” by Kagan et al. https://t.co/LsDEg1Wrrx @Ped_Neph @ozaltinf @drjosflynn #CAKUT #genetics #RareDisease #monogenicdisorders

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GenQA (Genomics Quality Assessment) @GenQA

over 4 years ago

The posters presented by GenQA staff at the PGDIS meeting are now available to download at https://t.co/903u6jubll #PGT #aneuploides #monogenicdisorders #EQA #quality #genomics #cytogenomics #preimplantationgenetictesting

GenQA's tweet photo. The posters presented by GenQA staff at the PGDIS meeting are now available to download at https://t.co/903u6jubll
#PGT #aneuploides #monogenicdisorders #EQA #quality #genomics #cytogenomics #preimplantationgenetictesting https://t.co/bbAvdcQqXG

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GenQA (Genomics Quality Assessment) @GenQA

almost 5 years ago

Distribution 18: The 2021 Clinical Genetics and Genetic Counselling EQAs are now open. Use our brand new website interface to submit your online results by the 19th November! #cardiovascular #oncogenetics #dysmorphology #monogenicdisorders #clinicalgenetics #genomics #EQA

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Portland Press @PPPublishing

over 6 years ago

Inborn errors of #metabolism (#IEM) represent a growing group of #MonogenicDisorders each associated with inherited defects in a metabolic enzyme leading to biochemical abnormalities arising from a metabolic block Read more: https://t.co/p5HkzJPjWy #OpenAccess @rarediseaseday

PPPublishing's tweet photo. Inborn errors of #metabolism (#IEM) represent a growing group of #MonogenicDisorders each associated with inherited defects in a metabolic enzyme leading to biochemical abnormalities arising from a metabolic block

Read more: https://t.co/p5HkzJPjWy

#OpenAccess @rarediseaseday https://t.co/vbxW6eqkDy

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GenQA (Genomics Quality Assessment) @GenQA

about 7 years ago

GenQA staff have been busy preparing/dispatching samples for the 2019 Preimplantation Genetic Testing for monogenic disorders Stage 2 EQA. Please login to your GenQA account for further details, and submit your results by 18th October! #EQA #PGT #monogenicdisorders @UKNEQAS