Suchergebnisse - "Elefant, Naama"

PubPharm (26)

1

Genetic testing in kidney transplantation helped develop a morbidity gene panel for evaluation of kidney transplant recipients

enthalten in: Kidney international | 2024

von Ma, B. | Elefant, N. | Tedesco, M. | +12

2

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

enthalten in: American journal of human genetics | 2023

von Engal, E. | Oja, K. | Maroofian, R. | +28

UpdateOf: medRxiv. 2023 Jun 27;:. - PMID 37425688

3

Biallelic loss of function variants inWBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

enthalten in: bioRxiv.org | 2023

von Engal, E. | Oja, K. | Maroofian, R. | +23

4

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Engal, E. | Oja, K. | Maroofian, R. | +23

UpdateIn: Am J Hum Genet. 2023 Nov 13;:. - PMID 37963460

5

Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia

enthalten in: Neurogenetics | 2023

von Gilboa, T. | Elefant, N. | Meiner, V. | +1

6

Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia

enthalten in: Neurogenetics | 2022

von Gilboa, T. | Elefant, N. | Meiner, V. | +1

7

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome

enthalten in: bioRxiv.org | 2022

von Elefant, N. | Nikolopoulou, P. | Vassiliki Papadaki, V. | +14

8

An Adult with Recurrent Severe Pneumococcal Pneumonia Secondary to Prolidase Deficiency

enthalten in: The Israel Medical Association journal : IMAJ | 2021

von Kenig, A. | Perzon, O. | Tal, Y. | +6

9

Innate Immune Landscape in Early Lung Adenocarcinoma by Paired Single-Cell Analyses

enthalten in: Cell | 2017

von Lavin, Y. | Kobayashi, S. | Leader, A. | +26

CommentIn: Cell. 2017 May 4;169(4):567-569. - PMID 28475889

10

Each cell counts : Hematopoiesis and immunity research in the era of single cell genomics

enthalten in: Seminars in immunology | 2015

von Jaitin, D. | Keren-Shaul, H. | Elefant, N. | +1