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Bramswig, Nuria C
69
results:
Search for persons
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Format
Online (69)
Mediatypes
Articles (Online) (36)
OpenAccess-fulltext (32)
Thesis (Online) (1)
Languages
german (2)
english (62)
Sorted by: Relevance
Sorted by: Year
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1
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/..
?
2
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/..
?
3
PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:
Kampmeier, Antje
;
Leitão, Elsa
;
Parenti, Ilaria
...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Heterozygous rare variants in NR2F2 cause a recognizable mu..:
Ganapathi, Mythily
;
Matsuoka, Leticia S.
;
March, Michael
...
European Journal of Human Genetics. 31 (2023) 10 - p. 1117-1124 , 2023
Link:
https://doi.org/10.1038/..
?
5
Comprehensive neurological evaluation of a cohort of patien..:
Angelova-Toshkina, Daniela
;
Decker, Josua A.
;
Traunwieser, Thomas
...
European Journal of Paediatric Neurology. 43 (2023) - p. 52-61 , 2023
Link:
https://doi.org/10.1016/..
?
6
Episignature Mapping of TRIP12 Provides Functional Insight ..:
van der Laan, Liselot
;
Rooney, Kathleen
;
Alders, Mariëlle
...
International Journal of Molecular Sciences. 23 (2022) 22 - p. 13664 , 2022
Link:
https://doi.org/10.3390/..
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7
ANKRD11 variants: KBG syndrome and beyond:
Parenti, Ilaria
;
Mallozzi, Mark B.
;
Hüning, Irina
...
Clinical Genetics. 100 (2021) 2 - p. 187-200 , 2021
Link:
https://doi.org/10.1111/..
?
8
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With..:
Munteanu, Martin
;
Kiewert, Cordula
;
Matar, Nora
...
Journal of the Endocrine Society. 3 (2019) 7 - p. 1383-1389 , 2019
Link:
https://doi.org/10.1210/..
?
9
Genetic variants in components of the NALCN–UNC80–UNC79 ion..:
Bramswig, Nuria C.
;
Bertoli-Avella, Aida M.
;
Albrecht, Beate
...
Human Genetics. 137 (2018) 9 - p. 753-768 , 2018
Link:
https://doi.org/10.1007/..
?
10
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/..
?
11
BCL11B mutations in patients affected by a neurodevelopment..:
Lessel, Davor
;
Gehbauer, Christina
;
Bramswig, Nuria C
...
Brain. 141 (2018) 8 - p. 2299-2311 , 2018
Link:
https://doi.org/10.1093/..
?
12
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/..
?
13
Heterozygous HNRNPU variants cause early onset epilepsy and..:
Bramswig, Nuria C.
;
Lüdecke, Hermann-Josef
;
Hamdan, Fadi F.
...
Human Genetics. 136 (2017) 7 - p. 821-834 , 2017
Link:
https://doi.org/10.1007/..
?
14
Mutations in chromatin regulators functionally link Corneli..:
Parenti, Ilaria
;
Teresa-Rodrigo, María E.
;
Pozojevic, Jelena
...
Human Genetics. 136 (2017) 3 - p. 307-320 , 2017
Link:
https://doi.org/10.1007/..
?
15
Identification of new TRIP12 variants and detailed clinical..:
Bramswig, Nuria C.
;
Lüdecke, H.-J.
;
Pettersson, M.
...
Human Genetics. 136 (2016) 2 - p. 179-192 , 2016
Link:
https://doi.org/10.1007/..
1-15