Top Tweets for #Genotypephenotype
In 163 pooled cases, median seizure onset was 4.0 years, with frequent absence seizures and MRI abnormalities.
https://t.co/n2VeNYu3GF
#epilepsy #ILAE #epilepsia #ANKRD11gene #genotypephenotype #KBGsyndrome
ASXL3-related disorder shows substantial genetic and clinical variability, with variant location influencing severity and autism risk, underscoring the complexity of #genotypephenotype relationships. https://t.co/Ng4vLQl19x #GIMO #ASXL3 #BainbridgeRopers #Molecular #Mechanisms
Great talk by Prof Helen Lachmann on #diagnostic #genetesting how to interpret #geneticreport #advancement #somaticmosaicism #genotypephenotype #variantsofsignificance #sanger
#omics Genetic testing in #UK spoken at National Pediatric Rheumatology Conference at #indore #India
Quantitative unbiased natural history modeling of HPDL-related disease identifies three distinct phenotypes https://t.co/UZIC8QpujW #NeuroGenetics #SPG83 #GenotypePhenotype
Just completed the 2024 Virtual Diagnostic School by the Clinical Immunology Society. Learned a lot about immunogenetics and genotype-phenotype correlation. Excited to apply this knowledge in clinical practice! #Immunology #Immunogenetics #GenotypePhenotype #Rheumatology
Chinese PPRD patients exhibit unique mutations with specific genotype-phenotype correlations, influencing disease onset and joint involvement.
#meded #SoMe4PedSurg #child #InnoConf24 #RareDiseases #PPRD #GenotypePhenotype #OrthopedicResearch
https://t.co/NuQf1XAoyW
Key point: We report genotype–phenotype analysis of an international cohort of 1018 individuals with #SCN1A-related epilepsies
https://t.co/3Q5PgOWKIb (Open access)
#epilepsy #ILAE #Dravetsyndrome #GEFS #genotypephenotype #myoclonicepilepsy @IlaeWeb @epilepsiajourn @WileyNeuro
NeuroGenetics alert! Brain Gene Registry aims to advance knowledge of #GenotypePhenotype relationships in neurodevelopmental disorders https://t.co/u9xdyL5otE
New gene-disease association! Biallelic variants in SLC4A10 cause a variable neurodevelopmental disorder https://t.co/GAKEPpn6k3 #Neurogenetics #GenotypePhenotype
Genotype-phenotype correlation is something we're always looking for in genetic disease but, for a variety of reasons, can so often elude us.
Interesting new publication in Niemann-Pick C.
https://t.co/X3gf91Wwrq
#niemannPick #LSD #genotypephenotype
WWOX Developmental and Epileptic Encephalopathy (WWOX‐DEE): understanding the epileptology and the mortality risk https://t.co/8BZ0BxFq58
#epilepsy #WWOX #epilepticencephalopathy #EIDEE #epilepticspasms #genotypephenotype #survivalprobability @IlaeWeb @WileyNeuro
Magistral talk here in Barcelona by @FiladelfiaGene1 on #genotypephenotype correlations in #SCN8A-related disorders #EpiCare @Elegardella @cmbosselmann @NeuRoberto
KBG syndrome: Not just haploinsufficiency. ANKRD11 missense variants also cause the syndrome, the mechanism described herein #ANKRD11 #GenotypePhenotype #KBGSyndrome https://t.co/jdsps59tn5
Speaking of SBTs and arborizing pattern, check out this case report @IJGynP @ISGynP
An endometrial endometrioid adenoCA with similar growth pattern and KRAS mutation, which are common in SBTs though can be seen in endometrial tumors.#genotypephenotype
https://t.co/xUZSWkXNnE
Truly “arborizing” papillary growth in a serous borderline tumor 🌳
#GYNpath
Ready for a protocol to guide the computational mapping of phenotypes to bottleneck cellular (linked to metabolism) processes?? Stay tuned! 😱🙃🙂
#genotypephenotype #geneticscreens #omicsdata #conditionalessentiality #metabolism #metabolicmodeling #isthispossible
#fulllengtharticle #SCA #Genotypephenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3 @ELSNeurology Log in to: https://t.co/L16DrNqIDp
Attempting to build #genotypephenotype linking software, researchers from @SickKidsNews discovered a bigger problem: symptoms were recorded inconsistently and were not readable by #AI.
Thus the first seed for @PhenoTips was planted #GEW2019 #NationalEntrepreneursDay
@sanamloghavi @doctorpemm @BloodJournal Congratulations on noting and reporting the #genotypephenotype correlation of this unusual and rare #MPN with concurrent CALR mutation and BCR-ABL1 #whypathologymatters
One of my favorite papers with @doctorpemm and @kanagalshamanna it was really cool to see the evolution of morphology and the #genotypephenotype correlation. Learned so much from it. @BloodJournal #hemepath #mpnsm
👉👉👉Insights from response to tyrosine kinase inhibitor therapy in a rare myeloproliferative neoplasm w/#CALR mutation and BCR-ABL1 | @BloodJournal | Dr Sanam Loghavi @sanamloghavi @doctorpemm @BloodJournal #MPNSM #leusm https://t.co/dMogVw1xYn
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