E-LIB Suche - Ergebnisse für: Abou Jamra, Rami

1

Dominant CST3 variants cause adult onset leukodystrophy wit..:

Bergner, Caroline G ; Breur, Marjolein ; Soto-Bernardini, M Clara...
Brain. , 2024

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

2

Variant-specific pathophysiological mechanisms of AFF3 diff..:

Bassani, Sissy ; Chrast, Jacqueline ; Ambrosini, Giovanna...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

3

Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics. 143 (2024) 3 - p. 455-469 , 2024

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

4

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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

5

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

6

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine. 25 (2023) 7 - p. 100859 , 2023

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

7

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics. 110 (2023) 1 - p. 120-145 , 2023

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

8

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology. 148 (2023) - p. 164-171 , 2023

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

9

Hypochondroplasia and temporal lobe epilepsy – A series of ..:

Ahmadi, Mehdi ; Herting, Arne ; Mueffelmann, Birgitt...
Epilepsy & Behavior. 126 (2022) - p. 108479 , 2022

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

10

Heterozygous and homozygous variants in STX1A cause a neuro..:

Luppe, Johannes ; Sticht, Heinrich ; Lecoquierre, François...
European Journal of Human Genetics. 31 (2022) 3 - p. 345-352 , 2022

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

11

De Novo Missense Variants in SLC32A1 Cause a Developmental ..:

Platzer, Konrad ; Sticht, Heinrich ; Bupp, Caleb...
Annals of Neurology. 92 (2022) 6 - p. 958-973 , 2022

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

12

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/..

13

Altered gene expression profiles impair the nervous system ..:

Körner, Marek B. ; Velluva, Akhil ; Bundalian, Linnaeus...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

14

De novo variants in the PABP domain of PABPC1 lead to devel..:

Wegler, Meret ; Jia, Xiangbin ; Alders, Marielle...
Genetics in Medicine. 24 (2022) 8 - p. 1761-1773 , 2022

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

15

Routine Diagnostics Confirm Novel Neurodevelopmental Disord..:

Jauss, Robin-Tobias ; Schließke, Sophia ; Abou Jamra, Rami
Genes. 13 (2022) 12 - p. 2305 , 2022

Link: https://doi.org/10.3390/..