E-LIB Suche - Ergebnisse für: Evers, Christina

1

Compilation of Genotype and Phenotype Data in GCDH-LOVD for..:

Tibelius, Alexandra ; Evers, Christina ; Oeser, Sabrina...
Genes. 14 (2023) 12 - p. 2218 , 2023

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

2

Characterization of glycosylphosphatidylinositol biosynthes..:

Knaus, Alexej ; Pantel, Jean Tori ; Pendziwiat, Manuela...
Genome Medicine. 10 (2018) 1 - p. , 2018

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

3

Impact of clinical exomes in neurodevelopmental and neurome..:

Evers, Christina ; Staufner, Christian ; Granzow, Martin...
Molecular Genetics and Metabolism. 121 (2017) 4 - p. 297-307 , 2017

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

4

Diagnosis of CoPAN by whole exome sequencing: Waking up a s..:

Evers, Christina ; Seitz, Angelika ; Assmann, Birgit...
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1878-1886 , 2017

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

5

Women at familial risk of breast cancer electing for prophy..:

Schott, Sarah ; Vetter, Lisa ; Keller, Monika...
Archives of Gynecology and Obstetrics. 295 (2017) 6 - p. 1451-1458 , 2017

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

6

DDX3X mutations in two girls with a phenotype overlapping T..:

Dikow, Nicola ; Granzow, Martin ; Graul‐Neumann, Luitgard M....
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1369-1373 , 2017

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

7

Familial breast cancer: Genetic counseling over time, inclu..:

Evers, Christina ; Fischer, Christine ; Dikow, Nicola..
PLOS ONE. 12 (2017) 5 - p. e0177893 , 2017

Link: https://doi.org/10.1371/..

8

Exome sequencing reveals a novel CWF19L1 mutation associate..:

Evers, Christina ; Kaufmann, Lilian ; Seitz, Angelika...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1502-1509 , 2016

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

9

Adherence to the breast cancer surveillance program for wom..:

Vetter, Lisa ; Keller, Monika ; Bruckner, Thomas...
Breast Cancer Research and Treatment. 156 (2016) 2 - p. 289-299 , 2016

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

10

Genetik:

, In: Fehlgeburten Totgeburten Frühgeburten,

Evers, Christina - p. 89-99 , 2016

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

11

Genotype and phenotype in patients with Noonan syndrome and..:

Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie...
Genetics in Medicine. 18 (2016) 12 - p. 1226-1234 , 2016

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

12

Duplication Xp11.22‐p14 in females: Does X‐inactivation hel..:

Evers, Christina ; Mitter, Diana ; Strobl‐Wildemann, Gertrud...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 553-562 , 2015

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

13

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic ..:

Bertoli-Avella, Aida M. ; Gillis, Elisabeth ; Morisaki, Hiroko...
Journal of the American College of Cardiology. 65 (2015) 13 - p. 1324-1336 , 2015

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

14

Phenotypic and molecular insights into CASK-related disorde..:

Moog, Ute ; Bierhals, Tatjana ; Brand, Kristina...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

15

Mosaic deletion of EXOC6B: Further evidence for an importan..:

Evers, Christina ; Maas, Bianca ; Koch, Karin A....
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3088-3094 , 2014

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