E-LIB Suche - Ergebnisse für: Angelika Rieß

1

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

2

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

3

ABRAXAS1 orchestrates BRCA1 activities to counter genome de..:

Sachsenweger, Juliane ; Jansche, Rebecca ; Merk, Tatjana...
Cell Death & Disease. 14 (2023) 5 - p. , 2023

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

4

Expansion of the phenotypic and molecular spectrum of CWF19..:

Alvarez, Carolina ; Grimmel, Mona ; Ebrahimi‐Fakhari, Darius...
Clinical Genetics. 103 (2023) 5 - p. 566-573 , 2023

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

5

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/..

6

In-depth characterisation of a cohort of individuals with m..:

Morison, Lottie D ; Meffert, Elisabeth ; Stampfer, Miriam...
Journal of Medical Genetics. 60 (2022) 6 - p. 597-607 , 2022

Link: https://doi.org/10.1136/..

7

Growth, development, and phenotypic spectrum of individuals..:

Zarate, Yuri A. ; Bosanko, Katherine A. ; Thomas, Mary Ann...
Clinical Genetics. 99 (2021) 4 - p. 547-557 , 2021

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

8

Genetic basis of neurodevelopmental disorders in 103 Jordan..:

Froukh, Tawfiq ; Nafie, Omar ; Al Hait, Sana' A. S....
Clinical Genetics. 97 (2020) 4 - p. 621-627 , 2020

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

9

Pontocerebellar hypoplasia type 11: Does the genetic defect..:

Laugwitz, Lucia ; Buchert, Rebecca ; Groeschel, Samuel...
European Journal of Medical Genetics. 63 (2020) 7 - p. 103938 , 2020

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

10

Long‐term disease course of two patients with multiple sulf..:

Beck‐Wödl, Stefanie ; Kehrer, Christiane ; Harzer, Klaus...
JIMD Reports. 58 (2020) 1 - p. 80-88 , 2020

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

11

The impact of an audience response system on a summative as..:

Schmidt, Thorsten ; Gazou, Anastasia ; Rieß, Angelika...
BMC Medical Education. 20 (2020) 1 - p. , 2020

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

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

Structural brain anomalies in patients with FOXG1 syndrome ..:

Pringsheim, Milka ; Mitter, Diana ; Schröder, Simone...
Annals of Clinical and Translational Neurology. 6 (2019) 4 - p. 655-668 , 2019

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

14

Epilepsy is not a mandatory feature of STXBP1 associated at..:

Gburek-Augustat, Janina ; Beck-Woedl, Stefanie ; Tzschach, Andreas...
European Journal of Paediatric Neurology. 20 (2016) 4 - p. 661-665 , 2016

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

15

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/..