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Jamra, Rami Abou
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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10

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics.  32 (2023)  14 - p. 2373-2385 , 2023
Link: https://doi.org/10.1093/..
 
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11

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 I..:

Halfmeyer, Insa ; Bartolomaeus, Tobias ; Popp, Bernt...
Genes.  14 (2022)  1 - p. 30 , 2022
Link: https://doi.org/10.3390/..
 
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12

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1909-1922 , 2022
Link: https://doi.org/10.1016/..
 
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13

Bi-allelic variants inCHKAcause a neurodevelopmental disord..:

Klöckner, Chiara ; Fernández-Murray, J Pedro ; Tavasoli, Mahtab...
Brain.  145 (2022)  6 - p. 1916-1923 , 2022
Link: https://doi.org/10.1093/..
 
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14

The genetic landscape of intellectual disability and epilep..:

Zacher, Pia ; Mayer, Thomas ; Brandhoff, Frank...
Genetics in Medicine.  23 (2021)  8 - p. 1492-1497 , 2021
Link: https://doi.org/10.1038/..
 
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15

Correction: Bi-allelic loss of function variants in SLC30A5..:

Lieberwirth, Johann Kaspar ; Joset, Pascal ; Heinze, Anja...
European Journal of Human Genetics.  29 (2021)  5 - p. 887-887 , 2021
Link: https://doi.org/10.1038/..
 
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