E-LIB Suche - Ergebnisse für: Rami Abou Jamra

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 SP9 cause a novel form of interneuronop..:

Tessarech, Marine ; Friocourt, Gaëlle ; Marguet, Florent...
Genetics in Medicine. 26 (2024) 5 - p. 101087 , 2024

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

5

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

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

6

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/..

7

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open. 1 (2023) 1 - p. 100225 , 2023

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

8

Re-evaluation and re-analysis of 152 research exomes five y..:

Bartolomaeus, Tobias ; Hentschel, Julia ; Jamra, Rami Abou.
European Journal of Human Genetics. 31 (2023) 10 - p. 1154-1164 , 2023

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

9

Genetische Diagnostik im klinischen Alltag der Kinder- und ..:

Degenhardt, Franziska ; Wohlleber, Eva ; Jamra, Rami Abou.
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie. , 2023

Link: https://doi.org/10.1024/..

10

Hemophagocytic lymphohistiocytosis–like hyperinflammation d..:

Wolf, Christine ; Fischer, Hannah ; Kühl, Jörn-Sven...
Journal of Allergy and Clinical Immunology. 152 (2023) 5 - p. 1336-1344.e5 , 2023

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

11

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

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

12

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/..

13

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine. 25 (2023) 11 - p. 100950 , 2023

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

14

Expanding the spectrum of EEF1D neurodevelopmental disorder..:

Averdunk, Luisa ; Al‐Thihli, Khalid ; Surowy, Harald...
Clinical Genetics. 103 (2023) 4 - p. 484-491 , 2023

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

15

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/..