BibTex format
@article{Fleming:2024:10.1038/s41431-024-01599-7,
author = {Fleming, A and Galey, M and Briggs, L and Edwards, M and Hogg, C and John, S and Wilkinson, S and Quinn, E and Rai, R and Burgoyne, T and Rogers, A and Patel, MP and Griffin, P and Muller, S and Carr, SB and Loebinger, MR and Lucas, JS and Shah, A and Jose, R and Mitchison, HM and Shoemark, A and Miller, DE and Morris-Rosendahl, DJ},
doi = {10.1038/s41431-024-01599-7},
journal = {EUROPEAN JOURNAL OF HUMAN GENETICS},
title = {Combined approaches, including long-read sequencing, address the diagnostic challenge of <i>HYDIN</i> in primary ciliary dyskinesia},
url = {http://dx.doi.org/10.1038/s41431-024-01599-7},
year = {2024}
}
RIS format (EndNote, RefMan)
TY - JOUR
AU - Fleming,A
AU - Galey,M
AU - Briggs,L
AU - Edwards,M
AU - Hogg,C
AU - John,S
AU - Wilkinson,S
AU - Quinn,E
AU - Rai,R
AU - Burgoyne,T
AU - Rogers,A
AU - Patel,MP
AU - Griffin,P
AU - Muller,S
AU - Carr,SB
AU - Loebinger,MR
AU - Lucas,JS
AU - Shah,A
AU - Jose,R
AU - Mitchison,HM
AU - Shoemark,A
AU - Miller,DE
AU - Morris-Rosendahl,DJ
DO - 10.1038/s41431-024-01599-7
PY - 2024///
SN - 1018-4813
TI - Combined approaches, including long-read sequencing, address the diagnostic challenge of <i>HYDIN</i> in primary ciliary dyskinesia
T2 - EUROPEAN JOURNAL OF HUMAN GENETICS
UR - http://dx.doi.org/10.1038/s41431-024-01599-7
ER -