E-LIB Suche - Ergebnisse für: Steindl, Katharina

1

DPF2-related Coffin-Siris syndrome type 7 in two generation:

Kolokotronis, Konstantinos ; Suter, Aude-Annick ; Ivanovski, Ivan...
European Journal of Medical Genetics. 69 (2024) - p. 104945 , 2024

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

2

Further evidence that the neurodevelopmental gene FBXW7 pre..:

Meier‐Abt, Fabienne ; Kraemer, Dennis ; Braun, Nils...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

3

SNUPN deficiency causes a recessive muscular dystrophy due ..:

Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl...
Nature Communications. 15 (2024) 1 - p. , 2024

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

4

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics. , 2024

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

5

De novo variants in ATXN7L3 lead to developmental delay, hy..:

Harel, Tamar ; Spicher, Camille ; Scheer, Elisabeth...
Brain. , 2024

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

6

Cover:

Grether, Anna ; Ivanovski, Ivan ; Russo, Martina...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023

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

7

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

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

8

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023

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

9

Microdeletions at 19p13.11p12 in five individuals with neur..:

Rieger, Melissa ; Moutton, Sébastien ; Verheyen, Sarah...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104669 , 2023

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

10

The genetic landscape and clinical implication of pediatric..:

Zanoni, Paolo ; Steindl, Katharina ; Sticht, Heinrich...
European Journal of Human Genetics. 31 (2023) 7 - p. 784-792 , 2023

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

11

A very mild phenotype in six individuals of a three‐generat..:

Frey, Tanja ; Ivanovski, Ivan ; Bahr, Angela...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2074-2082 , 2023

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

12

The current benefit of genome sequencing compared to exome ..:

Grether, Anna ; Ivanovski, Ivan ; Russo, Martina...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023

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

13

Assessing clinical utility of preconception expanded carrie..:

Boonsawat, Paranchai ; Horn, Anselm H. C. ; Steindl, Katharina...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

14

Further characterization of Borjeson‐Forssman‐Lehmann syndr..:

Gerber, Céline B. ; Fliedner, Anna ; Bartsch, Oliver...
Clinical Genetics. 102 (2022) 3 - p. 182-190 , 2022

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

15

Response to Cueto-González et al:

Zanoni, Paolo ; Steindl, Katharina ; Rauch, Anita
Genetics in Medicine. 24 (2022) 3 - p. 757 , 2022

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