المؤلفون: Faergeman, Soren L., Evans, Hayley, Attfield, Kathrine E., Desel, Christiane, Kuttikkatte, Subita Balaram, Sommerlund, Mette, Jensen, Lise Torp, Frokiaer, Jorgen, Friese, Manuel A., Matthews, Paul M., Luchtenborg, Christian, Brügger, Britta, Oturai, Annette Bang, Dendrou, Calliope A., Fugger, Lars

المصدر: Faergeman , S L , Evans , H , Attfield , K E , Desel , C , Kuttikkatte , S B , Sommerlund , M , Jensen , L T , Frokiaer , J , Friese , M A , Matthews , P M , Luchtenborg , C , Brügger , B , Oturai , A B , Dendrou , C A & Fugger , L 2020 , ' A novel neurodegenerative spectrum disorder in patients with MLKL deficiency ' , Cell Death and Disease , vol. 11 , 303 . https://doi.org/10.1038/s41419-020-2494-0Test

العلاقة: https://pure.au.dk/portal/da/publications/a-novel-neurodegenerative-spectrum-disorder-in-patients-with-mlkl-deficiencyTest(d1ea5d79-9f9d-4ef7-808d-3b63310be6e8).html

الإتاحة: https://doi.org/10.1038/s41419-020-2494-0Test
https://pure.au.dk/portal/da/publications/a-novel-neurodegenerative-spectrum-disorder-in-patients-with-mlkl-deficiencyTest(d1ea5d79-9f9d-4ef7-808d-3b63310be6e8).html
http://www.scopus.com/inward/record.url?scp=85084146817&partnerID=8YFLogxKTest

المؤلفون: Faergeman, Soren L., Bojesen, Anders B., Rasmussen, Maria, Becher, Naja, Andreasen, Lotte, Andersen, Brian N., Erbs, Emilie, Lildballe, Dorte L., Nielsen, Jens Erik K., Zilmer, Monica, Hammer, Trine Bjørg, Andersen, Mikkel, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Illum, Niels O., Thorup, Mette B., Gregersen, Pernille A.

المصدر: Faergeman , S L , Bojesen , A B , Rasmussen , M , Becher , N , Andreasen , L , Andersen , B N , Erbs , E , Lildballe , D L , Nielsen , J E K , Zilmer , M , Hammer , T B , Andersen , M , Brasch-Andersen , C , Fagerberg , C R , Illum , N O , Thorup , M B & Gregersen , P A 2021 , ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ' , ....

مصطلحات موضوعية: AHDC1, Dysmorphism, Reverse phenotyping, Whole exome sequencing, Xia-gibbs syndrome

العلاقة: https://pure.au.dk/portal/da/publications/phenotypic-heterogeneity-and-mosaicism-in-xiagibbs-syndromeTest(13a270cc-3718-4690-a558-995275d1ab84).html

الإتاحة: https://doi.org/10.1016/j.ejmg.2021.104280Test
https://pure.au.dk/portal/da/publications/phenotypic-heterogeneity-and-mosaicism-in-xiagibbs-syndromeTest(13a270cc-3718-4690-a558-995275d1ab84).html
http://www.scopus.com/inward/record.url?scp=85109430816&partnerID=8YFLogxKTest

المؤلفون: Faergeman, Soren L, Gregersen, Pernille A, Andersen, Brian Nauheimer, Becher, Naja, Bojesen, Anders Bryø

المصدر: Faergeman , S L , Gregersen , P A , Andersen , B N , Becher , N & Bojesen , A B 2019 , ' A novel de novo frameshift variant identified in AHDC1 in two unrelated boys with Xia-Gibbs syndrome ' , ESHG conference 2019 , Gothenburg , Sweden , 17/07/2019 - 21/12/2019 .

العلاقة: https://pure.au.dk/portal/en/publications/ab196210-f000-4c39-9596-ae64e75035e3Test

الإتاحة: https://pure.au.dk/portal/en/publications/ab196210-f000-4c39-9596-ae64e75035e3Test

المؤلفون: Dendrou, Calliope A, Cortes, Adrian, Shipman, Lydia, Evans, Hayley G, Attfield, Kathrine E, Jostins, Luke, Barber, Thomas, Kaur, Gurman, Kuttikkatte, Subita Balaram, Leach, Oliver A, Desel, Christiane, Faergeman, Soren L, Cheeseman, Jane, Neville, Matt J, Sawcer, Stephen, Compston, Alastair, Johnson, Adam R, Everett, Christine, Bell, John I, Karpe, Fredrik, Ultsch, Mark, Eigenbrot, Charles, McVean, Gil, Fugger, Lars

المصدر: Dendrou , C A , Cortes , A , Shipman , L , Evans , H G , Attfield , K E , Jostins , L , Barber , T , Kaur , G , Kuttikkatte , S B , Leach , O A , Desel , C , Faergeman , S L , Cheeseman , J , Neville , M J , Sawcer , S , Compston , A , Johnson , A R , Everett , C , Bell , J I , Karpe , F , Ultsch , M , Eigenbrot , C , McVean , ....

العلاقة: https://pure.au.dk/portal/en/publications/40d53288-29e7-4701-9be4-83b7aeefd5eeTest

الإتاحة: https://doi.org/10.1126/scitranslmed.aag1974Test
https://pure.au.dk/portal/en/publications/40d53288-29e7-4701-9be4-83b7aeefd5eeTest

المؤلفون: Dendrou, Calliope A., Cortes, Adrian, Shipman, Lydia, Evans, Hayley G., Attfield, Kathrine E., Jostins, Luke, Barber, Thomas, Kaur, Gurman, Kuttikkatte, Subita Balaram, Leach, Oliver A., Desel, Christiane, Faergeman, Soren L., Cheeseman, Jane, Neville, Matt J., Sawcer, Stephen, Compston, Alastair, Johnson, Adam R., Everett, Christine, Bell, John I., Karpe, Fredrik

المصدر: Science Translational Medicine; 11/2/2016, Vol. 8 Issue 363, p1-15, 15p, 5 Graphs

مصطلحات موضوعية: PROTEIN-tyrosine kinase genetics, PROTEIN-tyrosine kinases, AUTOIMMUNE diseases, AUTOIMMUNITY, IMMUNE response, HOMOZYGOSITY

المؤلفون: Dendrou, Calliope A., Cortes, Adrian, Shipman, Lydia, Evans, Hayley G., Attfield, Kathrine E., Jostins, Luke, Barber, Thomas, Kaur, Gurman, Kuttikkatte, Subita Balaram, Leach, Oliver A., Desel, Christiane, Faergeman, Soren L., Cheeseman, Jane, Neville, Matt J., Sawcer, Stephen, Compston, Alastair, Johnson, Adam R., Everett, Christine, Bell, John I., Karpe, Fredrik, Ultsch, Mark, Eigenbrot, Charles, McVean, Gil, Fugger, Lars

المصدر: Science Translational Medicine; November 2016, Vol. 8 Issue: 363 p363ra149-363ra149, 1p