E-LIB Suche - Ergebnisse für: Elpeleg, Orly

1

GRID1/GluD1 homozygous variants linked to intellectual disa..:

Ung, Dévina C. ; Pietrancosta, Nicolas ; Badillo, Elena Baz...
Molecular Psychiatry. 29 (2024) 4 - p. 1205-1215 , 2024

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

2

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine. 26 (2024) 4 - p. 101068 , 2024

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

3

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 c..:

Al Rawi, Sara ; Simpson, Lorna ; Agnarsdóttir, Guðrún...
The FEBS Journal. 291 (2024) 12 - p. 2565-2589 , 2024

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

4

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

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

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

5

Neurodevelopmental and synaptic defects in DNAJC6 parkinson..:

Abela, Lucia ; Gianfrancesco, Lorita ; Tagliatti, Erica...
Brain. 147 (2024) 6 - p. 2023-2037 , 2024

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

6

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry. 299 (2023) 8 - p. 105012 , 2023

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

7

Nociception and pain in humans lacking a functional TRPV1 c..:

Katz, Ben ; Zaguri, Rachel ; Edvardson, Simon...
Journal of Clinical Investigation. 133 (2023) 3 - p. , 2023

Link: https://doi.org/10.1172/..

8

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology. 24 (2023) 1 - p. , 2023

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

9

Combined Immunodeficiency Caused by a Novel Nonsense Mutati..:

Keller, Baerbel ; Kfir-Erenfeld, Shlomit ; Matusewicz, Paul...
Journal of Clinical Immunology. 44 (2023) 1 - p. , 2023

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

10

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/..

11

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

12

Clinical and Functional Study of a De Novo Variant in the P..:

Dinoi, Giorgia ; Morin, Michael ; Conte, Elena...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8079 , 2022

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

13

Mutations in SLC25A36 (PNC2) associated with the hyperinsul..:

Palmieri, Luigi ; Lasorsa, Francesco M. ; Elpeleg, Orly
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863 (2022) - p. 148843 , 2022

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

14

Orbital nodular fasciitis in child with biallelic germline ..:

Rips, Jonathan ; Abu-Libdeh, Bassam ; Koplewitz, Benjamin Z....
European Journal of Medical Genetics. 65 (2022) 6 - p. 104513 , 2022

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

15

A Novel Homozygous Missense Variant in the LRRC32 Gene Is A..:

Hexner-Erlichman, Zufit ; Fichtman, Boris ; Zehavi, Yoav...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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