E-LIB Suche - Ergebnisse für: Anne Gregor

1

Modelling phenotypes, variants and pathomechanisms of syndr..:

Gregor, Anne ; Zweier, Christiane
Medizinische Genetik. 36 (2024) 2 - p. 121-131 , 2024

Link: https://doi.org/10.1515/..

2

NDUFS7 variant in dogs with Leigh syndrome and its function..:

Christen, Matthias ; Gregor, Anne ; Gutierrez-Quintana, Rodrigo...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

4

Novel association of Dandy–Walker malformation with CAPN15 ..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2757-2767 , 2023

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

5

Genotype-phenotype correlations in RHOBTB2-associated neuro..:

Langhammer, Franziska ; Maroofian, Reza ; Badar, Rueda...
Genetics in Medicine. 25 (2023) 8 - p. 100885 , 2023

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

6

eP081: Dandy Walker malformation in three unrelated familie..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
Genetics in Medicine. 24 (2022) 3 - p. S53-S54 , 2022

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

7

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics. 31 (2021) 3 - p. 440-454 , 2021

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

8

Negative selection on human genes underlying inborn errors ..:

Rapaport, Franck ; Boisson, Bertrand ; Gregor, Anne...
Proceedings of the National Academy of Sciences. 118 (2021) 3 - p. , 2021

Link: https://doi.org/10.1073/..

9

Myeloperoxidase Modulates Inflammation in Generalized Pustu..:

Haskamp, Stefan ; Bruns, Heiko ; Hahn, Madelaine...
The American Journal of Human Genetics. 107 (2020) 3 - p. 527-538 , 2020

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

10

Loss of PHF6 leads to aberrant development of human neuron-..:

Fliedner, Anna ; Gregor, Anne ; Ferrazzi, Fulvia...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

11

Genetic interaction screen for severe neurodevelopmental di..:

Straub, Jonas ; Gregor, Anne ; Sauerer, Tatjana...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

12

Zika Virus Protease Cleavage of Host Protein Septin-2 Media..:

Li, Hongda ; Saucedo-Cuevas, Laura ; Yuan, Ling...
Neuron. 101 (2019) 6 - p. 1089-1098.e4 , 2019

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

13

Loss of Protocadherin‐12Leads to Diencephalic‐Mesencephalic..:

Guemez‐Gamboa, Alicia ; Çağlayan, Ahmet Okay ; Stanley, Valentina...
Annals of Neurology. 84 (2018) 5 - p. 638-647 , 2018

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

14

Biallelic mutations in the 3′ exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
Nature Genetics. 49 (2017) 3 - p. 457-464 , 2017

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

15

Clinical delineation of the PACS1‐related syndrome—Report o..:

Schuurs‐Hoeijmakers, Janneke H. M. ; Landsverk, Megan L. ; Foulds, Nicola...
American Journal of Medical Genetics Part A. 170 (2016) 3 - p. 670-675 , 2016

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