E-LIB Suche - Ergebnisse für: Wimmer, Katharina

1

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosa..:

Seidl‐Philipp, Magdalena ; Veyt, Nathalie ; Schnaiter, Simon...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 22 (2024) 3 - p. 426-429 , 2024

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

2

The heterogeneous cancer phenotype of individuals with bial..:

Hinić, Snežana ; Cybulski, Cezary ; Van der Post, Rachel S....
Genetics in Medicine. 26 (2024) 5 - p. 101101 , 2024

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

3

Constitutional mismatch repair deficiency mimicking Lynch s..:

Gallon, Richard ; Brekelmans, Carlijn ; Martin, Marie...
npj Precision Oncology. 8 (2024) 1 - p. , 2024

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

4

SG06 (P013) Eruptive seborrhoeic keratoses in late-onset co..:

Fostier, William ; Holt, Georgie ; Husain, Akhtar...
British Journal of Dermatology. 191 (2024) Supplement_1 - p. i183-i184 , 2024

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

5

Stratification of Homologous Recombination Deficiency-Negat..:

Schnaiter, Simon ; Schamschula, Esther ; Laschtowiczka, Juliane...
Cancers. 16 (2024) 11 - p. 2129 , 2024

Link: https://doi.org/10.3390/..

6

A Validated Highly Sensitive Microsatellite Instability Ass..:

Marín, Fátima ; Canet-Hermida, Júlia ; Bianchi, Vanessa...
Clinical Chemistry. 70 (2024) 5 - p. 737-746 , 2024

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

7

Droplet Digital PCR for Fast and Accurate Characterization ..:

Pacot, Laurence ; Ye, Manuela ; Nectoux, Juliette...
The Journal of Molecular Diagnostics. 26 (2024) 2 - p. 150-157 , 2024

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

8

Gonadal and gonadosomatic mosaicism in NF1: report of two f..:

Seidl‐Philipp, Magdalena ; Veyt, Nathalie ; Schnaiter, Simon...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 22 (2024) 3 - p. 426-428 , 2024

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

9

P013 Eruptive seborrhoeic keratoses in late-onset constitut..:

Fostier, William ; Holt, Georgie ; Husain, Akhtar...
British Journal of Dermatology. 191 (2024) Supplement_1 - p. i20-i21 , 2024

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

10

Analysis of 200 unrelated individuals with a constitutional..:

Koczkowska, Magdalena ; Chen, Yunjia ; Xie, Jing...
Human Genetics. 142 (2023) 7 - p. 849-861 , 2023

Link: https://doi.org/10.1007/..

11

Updated diagnostic criteria and nomenclature for neurofibro..:

Plotkin, Scott R. ; Messiaen, Ludwine ; Legius, Eric...
Genetics in Medicine. 24 (2022) 9 - p. 1967-1977 , 2022

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

12

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predis..:

Schamschula, Esther ; Kinzel, Miriam ; Wernstedt, Annekatrin...
Biomolecules. 12 (2022) 10 - p. 1350 , 2022

Link: https://doi.org/10.3390/..

13

Overview of hereditary breast and ovarian cancer (HBOC) gui..:

Marmolejo, David Humberto ; Wong, Mark Yu Zheng ; Bajalica-Lagercrantz, Svetlana...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104350 , 2021

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

14

Revised diagnostic criteria for neurofibromatosis type 1 an..:

Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre...
Genetics in Medicine. 23 (2021) 8 - p. 1506-1513 , 2021

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

15

ConstitutionalPOLEvariants causing a phenotype reminiscent ..:

Sehested, Astrid ; Meade, Julia ; Scheie, David...
Human Mutation. 43 (2021) 1 - p. 85-96 , 2021

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