0000000000043270

AUTHOR

Anna Kaminska

0000-0003-3805-6651

showing 3 related works from this author

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Correction: IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients

2019

This Article was originally published under Nature Research’s License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

Pediatricsmedicine.medical_specialtyText miningbusiness.industryPublished ErratumEncephalopathyMedizinMEDLINEMedicinebusinessmedicine.diseaseGenetics (clinical)
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The coannihilation codex

2015

We present a general classification of simplified models that lead to dark matter (DM) coannihilation processes of the form DM + X $\rightarrow$ SM$_1$ + SM$_2$, where X is a coannihilation partner for the DM particle and SM$_1$, SM$_2$ are Standard Model fields. Our classification also encompasses regular DM pair annihilation scenarios if DM and X are identical. Each coannhilation scenario motivates the introduction of a mediating particle M that can either belong to the Standard Model or be a new field, whereby the resulting interactions between the dark sector and the Standard Model are realized as tree-level and dimension-four couplings. We construct a basis of coannihilation models, cl…

PhysicsParticle physicsNuclear and High Energy PhysicsAnnihilationLarge Hadron Collider010308 nuclear & particles physicsPhysicsElectroweak interactionDark matterFOS: Physical sciencesFermionQuantum number01 natural sciencesHigh Energy Physics - PhenomenologyMAJORANAHigh Energy Physics - Phenomenology (hep-ph)0103 physical sciencesddc:530Hadronic CollidersSymmetry breaking010306 general physicsPhenomenological ModelsJournal of High Energy Physics
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