E-LIB Suche - Ergebnisse für: Brunet, Theresa

1

Case Report: Stüve–Wiedemann syndrome—a rare cause of persi..:

Jin, Jessica ; Rothämel, Paula ; Büchel, Johanna...
Frontiers in Pediatrics. 11 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

3

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024

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

4

Clinical heterogeneity within the ALS‐FTD spectrum in a fam..:

Parvizi, Tandis ; Klotz, Sigrid ; Keritam, Omar...
Annals of Clinical and Translational Neurology. , 2024

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

5

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D. ; Shimura, Masaru...
Hepatology. 79 (2023) 5 - p. 1075-1087 , 2023

Link: https://doi.org/10.1097/..

6

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G....
European Journal of Human Genetics. 31 (2023) 9 - p. 1032-1039 , 2023

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

7

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1356-1376 , 2023

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

8

Next-generation sequencing and comprehensive data reassessm..:

Krenn, Martin ; Wagner, Matias ; Zulehner, Gudrun...
Journal of Neurology. 271 (2023) 4 - p. 1937-1946 , 2023

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

9

Exome sequencing (ES) of a pediatric cohort with chronic en..:

Gippert, Sebastian ; Wagner, Matias ; Brunet, Theresa...
Endocrine. , 2023

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

10

Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:

Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel...
Genetics in Medicine. 25 (2023) 7 - p. 100836 , 2023

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

11

De novo missense variants in RRAGC lead to a fatal mTORopat..:

Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie...
Genetics in Medicine. 25 (2023) 7 - p. 100838 , 2023

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

12

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1068-1085 , 2023

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

13

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

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

14

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M. ; VanCoillie, Rachel ; Vansickle, Elizabeth A....
Genetics in Medicine. 24 (2022) 10 - p. 2065-2078 , 2022

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

15

The constitutional gain‐of‐function variant p.Glu1099Lys in..:

Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle...
Clinical Genetics. 103 (2022) 2 - p. 226-230 , 2022

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