E-LIB Suche - Ergebnisse für: Krumbiegel, Mandy

1

Severe manifestation of Rauch‐Azzarello syndrome associated..:

Pauly, Melissa ; Krumbiegel, Mandy ; Trumpp, Sandra...
Clinical Genetics. 106 (2024) 2 - p. 180-186 , 2024

2

Microdeletions at 19p13.11p12 in five individuals with neur..:

Rieger, Melissa ; Moutton, Sébastien ; Verheyen, Sarah...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104669 , 2023

Link: https://doi.org/10.1016/..

3

Expanding the phenotype of 12q21 deletions: A role of BTG1 ..:

Blum, Katalin LML. ; Krumbiegel, Mandy ; Kraus, Cornelia..
European Journal of Medical Genetics. 66 (2023) 4 - p. 104717 , 2023

Link: https://doi.org/10.1016/..

4

Aberrant phase separation and nucleolar dysfunction in rare..:

Mensah, Martin A. ; Niskanen, Henri ; Magalhaes, Alexandre P....
Nature. , 2023

Link: https://doi.org/10.1038/..

5

Different MAPT haplotypes influence expression of total MAP..:

Tauber, Christina V. ; Schwarz, Sigrid C. ; Rösler, Thomas W....
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

SRD5A3-CDG: Twins with an intragenic tandem duplication:

Rieger, Melissa ; Türk, Matthias ; Kraus, Cornelia...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104492 , 2022

Link: https://doi.org/10.1016/..

7

Generation of a homozygous and a heterozygous SNCA gene kno..:

Schneider, Yanni ; Turan, Soeren ; Koller, Aron...
Stem Cell Research. 65 (2022) - p. 102952 , 2022

Link: https://doi.org/10.1016/..

8

BDV Syndrome: an Emerging Syndrome With Profound Obesity an..:

Bosch, Elisabeth ; Hebebrand, Moritz ; Popp, Bernt...
The Journal of Clinical Endocrinology & Metabolism. , 2021

Link: https://doi.org/10.1210/..

9

A noninvasive diagnostic approach to retrospective donor HL..:

Bach, Christian ; Knaup, Karl X. ; Herrmann, Markus...
Transplant International. 34 (2021) 7 - p. 1226-1238 , 2021

Link: https://doi.org/10.1111/..

10

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics. 31 (2021) 3 - p. 440-454 , 2021

Link: https://doi.org/10.1093/..

11

Clinical and molecular delineation of spondylocostal dysost..:

Schuhmann, Sarah ; Koller, Heiko ; Sticht, Heinrich...
Clinical Genetics. 99 (2021) 6 - p. 851-852 , 2021

Link: https://doi.org/10.1111/..

12

7q31.2q31.31 deletion downstream of FOXP2 segregating in a ..:

Rieger, Melissa ; Krumbiegel, Mandy ; Reuter, Miriam S....
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2737-2741 , 2020

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

13

CRISPR/Cas9 mediated generation of human ARID1B heterozygou..:

Boerstler, Tom ; Wend, Holger ; Krumbiegel, Mandy...
Stem Cell Research. 47 (2020) - p. 101889 , 2020

Link: https://doi.org/10.1016/..

14

Delineation of MidXq28‐duplication syndrome distal to MECP2..:

Sinibaldi, Lorenzo ; Parisi, Valentina ; Lanciotti, Silvia...
Clinical Genetics. 96 (2019) 3 - p. 246-253 , 2019

Link: https://doi.org/10.1111/..

15

Prenatal diagnosis of HNF1B‐associated renal cysts: Is ther..:

Vasileiou, Georgia ; Hoyer, Juliane ; Thiel, Christian T....
Prenatal Diagnosis. 39 (2019) 12 - p. 1136-1147 , 2019

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