E-LIB Suche - Ergebnisse für: Dufke, Andreas

1

Genomes in clinical care:

Riess, Olaf ; Sturm, Marc ; Menden, Benita...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Prenatal testing for Imprinting Disorders: A clinical persp..:

Dufke, Andreas ; Eggermann, Thomas ; Kagan, Karl Oliver..
Prenatal Diagnosis. 43 (2023) 8 - p. 983-992 , 2023

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

3

Prenatal testing for imprinting disorders: A laboratory per..:

Beygo, Jasmin ; Russo, Silvia ; Tannorella, Pierpaola...
Prenatal Diagnosis. 43 (2023) 8 - p. 973-982 , 2023

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

4

Clinical trio genome sequencing facilitates the interpretat..:

Schroeder, Christopher ; Faust, Ulrike ; Krauße, Luisa...
European Journal of Human Genetics. 31 (2023) 10 - p. 1139-1146 , 2023

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

5

Prenatal phenotyping of fetal tubulinopathies: A multicente..:

Brar, Bobby K. ; Thompson, Marisa Gilstrop ; Vora, Neeta L....
Prenatal Diagnosis. 42 (2022) 13 - p. 1686-1693 , 2022

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

6

A single center experience of prenatal parent‐fetus trio ex..:

Dufke, Andreas ; Hoopmann, Markus ; Waldmüller, Stephan...
Prenatal Diagnosis. 42 (2022) 7 - p. 901-910 , 2022

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

7

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, Ferdinand ; Morgan, Patricia ; Chaudhari, Bimal P....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 2 - p. 231-242 , 2022

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

8

292 Prenatal diagnosis of tubulinopathies:

Thompson, Marisa Gilstrop ; Giordano, Jessica L. ; Dufke, Andreas...
American Journal of Obstetrics and Gynecology. 224 (2021) 2 - p. S190-S191 , 2021

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

9

New euchromatic variant dup(11)(p15.3p15.1) transmitted thr..:

Singer, Sylke ; Gazou, Anastasia ; Sturm, Marc...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3053-3056 , 2021

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

10

Exomsequenzierung bei Kindern und Jugendlichen mit seltenen..:

Scholz, Tasja ; Dufke, Andreas ; Haack, Tobias...
Monatsschrift Kinderheilkunde. 170 (2021) 1 - p. 21-28 , 2021

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

11

Medizinische Zwillingsforschung in Deutschland; Twin resear..:

Enck, Paul ; Goebel-Stengel, Miriam ; Rieß, Olaf...
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 64 (2021) 10 - p. 1298-1306 , 2021

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

12

Pre‐ and postnatal findings in a patient with a recombinant..:

Habhab, Wisam ; Mau‐Holzmann, Ulrike ; Singer, Sylke...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2680-2684 , 2020

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

13

Parental origin of deletions and duplications – about the n..:

Liehr, Thomas ; Schreyer, Isolde ; Kuechler, Alma...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

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

14

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead ..:

Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodríguez Criado, Germán...
Molecular Psychiatry. 24 (2018) 11 - p. 1748-1768 , 2018

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

15

Identification of STAC3 variants in non‐Native American fam..:

Telegrafi, Aida ; Webb, Bryn D. ; Robbins, Sarah M....
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2763-2771 , 2017

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