POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
Cybel Mehawej
1
,
Eliane Chouery
1
,
Shirine Azar-Atallah
1
,
Wassim N. Shebaby
1
,
V. Delague
2
,
I. MANSOUR
3
,
Issam Mansour
3
,
G.L. Lefranc
4
,
Mirna Mustapha
5
,
2
Publication type: Journal Article
Publication date: 2024-05-08
scimago Q1
wos Q2
SJR: 0.909
CiteScore: 6.1
Impact factor: 2.9
ISSN: 00098981, 18733492
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Mehawej C. et al. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment // Clinica Chimica Acta. 2024. Vol. 558. p. 118291.
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Mehawej C., Chouery E., Azar-Atallah S., Shebaby W. N., Delague V., MANSOUR I., Mansour I., Lefranc G., Mustapha M., Megarbane A. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment // Clinica Chimica Acta. 2024. Vol. 558. p. 118291.
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TY - JOUR
DO - 10.1016/j.cca.2024.118291
UR - https://linkinghub.elsevier.com/retrieve/pii/S0009898124005321
TI - POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
T2 - Clinica Chimica Acta
AU - Mehawej, Cybel
AU - Chouery, Eliane
AU - Azar-Atallah, Shirine
AU - Shebaby, Wassim N.
AU - Delague, V.
AU - MANSOUR, I.
AU - Mansour, Issam
AU - Lefranc, G.L.
AU - Mustapha, Mirna
AU - Megarbane, A.
PY - 2024
DA - 2024/05/08
PB - Elsevier
SP - 118291
VL - 558
SN - 0009-8981
SN - 1873-3492
ER -
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@article{2024_Mehawej,
author = {Cybel Mehawej and Eliane Chouery and Shirine Azar-Atallah and Wassim N. Shebaby and V. Delague and I. MANSOUR and Issam Mansour and G.L. Lefranc and Mirna Mustapha and A. Megarbane},
title = {POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment},
journal = {Clinica Chimica Acta},
year = {2024},
volume = {558},
publisher = {Elsevier},
month = {may},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0009898124005321},
pages = {118291},
doi = {10.1016/j.cca.2024.118291}
}
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