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Bramswig, N.C
48  Ergebnisse:
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1

Transcriptional regulation of α-cell differentiation:

Bramswig, N. C. ; Kaestner, K. H.
Diabetes, Obesity and Metabolism.  13 (2011)  - p. 13-20 , 2011
Link: https://doi.org/10.1111/..
 
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2

Mutations in the BAF-complex subunit DPF2 are associated wi..:

Vasileiou, G ; Vergarajauregui, S ; Endele, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.01.014.  , 2018
Link: https://push-zb.helmholt..
 
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3

BCL11B mutations in patients affected by a neurodevelopment..:

Lessel, D ; Gehbauer, C ; Bramswig, N.C...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awy173.  , 2018
Link: https://push-zb.helmholt..
 
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4

Genetic variants in components of the NALCN-UNC80-UNC79 ion..:

Bramswig, N.C ; Bertoli-Avella, A.M ; Albrecht, B...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1929-5.  , 2018
Link: https://push-zb.helmholt..
 
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5

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C....
Human Mutation.  39 (2018)  9 - p. 1246-1261 , 2018
Link: https://doi.org/10.1002/..
 
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6

Heterozygosity for ARID2 loss-of-function mutations in indi..:

Bramswig, Nuria C. ; Caluseriu, O. ; Lüdecke, H.-J....
Human Genetics.  136 (2017)  3 - p. 297-305 , 2017
Link: https://doi.org/10.1007/..
 
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7

De novo mutations in SON disrupt RNA splicing of genes esse..:

Kim, J.H ; Shinde, D.N ; Reijnders, M.R...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2016.06.029.  , 2016
Link: https://push-zb.helmholt..
 
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8

De Novo Mutations in SON Disrupt RNA Splicing of Genes Esse..:

Kim, J.-H. (Jung-Hyun) ; Shinde, D.N. (Deepali N.) ; Reijnders, M.R.F. (Margot R.F.)...
http://repub.eur.nl/pub/95565.  , 2016
Link: http://repub.eur.nl/pub/..
 
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9

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
Link: https://kclpure.kcl.ac.u..
 
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10

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
Link: https://kclpure.kcl.ac.u..
 
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11

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A. N ; Sukalo, Maja ; Schroeder, Kim C...
10.1002/humu.23567.  , 2018
Link: http://hdl.handle.net/10..
 
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12

Complete virilization in congenital adrenal hyperplasia: cl..:

Woelfle, J. ; Hoepffner, W. ; Sippell, W. G....
Clinical Endocrinology.  56 (2002)  2 - p. 231-238 , 2002
Link: https://doi.org/10.1046/..
 
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13

De Novo Mutations in SON Disrupt RNA Splicing of Genes Esse..:

Kim, Jung-Hyun ; Shinde, Deepali N ; Reijnders, Margot R.F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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14

Adult syndromology: challenges, opportunities and perspecti..:

Schmetz MD, Ariane ; Ballesta-Martínez, Maria Juliana ; Isidor, Bertrand...
Medizinische Genetik.  36 (2024)  2 - p. 95-102 , 2024
Link: https://doi.org/10.1515/..
 
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15

Syndromology at the interface of evolving phenotypes, epimu..:

Bramswig, Nuria C. ; Wieczorek, Dagmar
Medizinische Genetik.  36 (2024)  2 - p. 93-94 , 2024
Link: https://doi.org/10.1515/..
 
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