Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - ard.bmj.com
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - hal.science
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - europepmc.org
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - cir.nii.ac.jp
抄録< jats: sec>< jats: title> Objectives</jats: title>< jats: p> To test the hypothesis that
ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner… - EARD, 2022 - publicatt.unicatt.it
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

[HTML][HTML] Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - ncbi.nlm.nih.gov
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn… - Annals of the …, 2022 - pure.johnshopkins.edu
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, FO Poswar, IVD Schwartz… - … Vol. 81, no. 10 (2022), p …, 2022 - lume.ufrgs.br
Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

[PDF][PDF] Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - ard.bmj.com
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - search.proquest.com
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …