E-LIB Suche - Ergebnisse für: Burgemeister, Anna, L

1

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian M ; Burgemeister, Anna L ; Cantagrel, Vincent...
Human Molecular Genetics. 31 (2022) 18 - p. 3083-3094 , 2022

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

2

Clinical report of 8 patients with 49,XXXXY syndrome: Delin..:

Burgemeister, Anna L. ; Daumiller, Eva ; du Bois, Gabriele...
European Journal of Medical Genetics. 62 (2019) 3 - p. 210-216 , 2019

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

3

Homozygous loss‐of‐function variants ofTASP1, a gene encodi..:

Suleiman, Jehan ; Riedhammer, Korbinian M. ; Jicinsky, Timothy...
Human Mutation. 40 (2019) 11 - p. 1985-1992 , 2019

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

4

Continuing role for classical cytogenetics: Case report of ..:

Burgemeister, Anna Lena ; Daumiller, Eva ; Dietze‐Armana, Ilona...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 727-732 , 2017

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

5

Menkes disease with discordant phenotype in female monozygo..:

Burgemeister, Anna Lena ; Zirn, Birgit ; Oeffner, Frank...
American Journal of Medical Genetics Part A. 167 (2015) 11 - p. 2826-2829 , 2015

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

6

Clinical and molecular characterization of the BRCA2 p.Asn3..:

Surowy, Harald Martin ; Sutter, Christian ; Mittnacht, Max...
Breast Cancer Research and Treatment. 145 (2014) 2 - p. 451-460 , 2014

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

7

Molecular and clinical characterization of an in frame dele..:

Rath, Michelle G. ; Fathali-Zadeh, Farnoosh ; Langheinz, Anne...
Breast Cancer Research and Treatment. 133 (2012) 2 - p. 725-734 , 2012

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

8

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian, M ; Burgemeister, Anna, L ; Amiel, Jeanne...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac098. , 2022

Link: https://hal.science/hal-..

9

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian, M ; Burgemeister, Anna, L ; Amiel, Jeanne...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac098. , 2022

Link: https://hal.science/hal-..

10

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian, M ; Burgemeister, Anna, L ; Amiel, Jeanne...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac098. , 2022

Link: https://hal.science/hal-..

11

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian, M ; Burgemeister, Anna, L ; Amiel, Jeanne...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac098. , 2022

Link: https://hal.science/hal-..

12

Menkes Disease with Discordant Phenotype in Female Monozygo..:

Burgemeister, Anna Lena ; Zirn, Birgit ; Oeffner, Frank...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6475897/. , 2015

Link: http://www.ncbi.nlm.nih...

13

Characteristics, predictors and outcomes among 99 patients ..:

Gregoriano, Claudia ; Koch, Daniel ; Haubitz, Sebastian...
Swiss Medical Weekly. 150 (2020) 2930 - p. w20316 , 2020

Link: https://doi.org/10.4414/..

14

Transkraniell-sonographische Untersuchungen von Patienten m..:

, 2008

Link: http://d-nb.info/9899902..

15

Characteristics, predictors and outcomes among 99 patients ..:

Claudia Gregoriano ; Daniel Koch ; Sebastian Haubitz...
https://www.smw.ch/index.php/smw/article/view/2839. , 2020

Link: https://doi.org/10.4414/..