E-LIB Suche - Ergebnisse für: Bramswig, Nuria C.

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

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/..

4

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/..

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/..

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

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo..:

Ballout, Rami A. ; Dickerson, Cheryl ; Wick, Myra J....
Human Mutation. 41 (2020) 7 - p. 1238-1249 , 2020

Link: https://doi.org/10.1002/..

9

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/..

10

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/..

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

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/..

13

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/..

14

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/..

15

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/..