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A novel IGSF1 mutation in a large Irish kindred highlights ..:
Roche, Edna F.
;
McGowan, Anne
;
Koulouri, Olympia
...
Clinical Endocrinology. 89 (2018) 6 - p. 813-823 , 2018
Link:
https://doi.org/10.1111/cen.13827
RT Journal T1
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cen.13827&Exemplar=1&LAN=DE A1 Roche, Edna F. A1 McGowan, Anne A1 Koulouri, Olympia A1 Turgeon, Marc‐Olivier A1 Nicholas, Adeline K. A1 Heffernan, Emmeline A1 El‐Khairi, Ranna A1 Abid, Noina A1 Lyons, Greta A1 Halsall, David A1 Bonomi, Marco A1 Persani, Luca A1 Dattani, Mehul T. A1 Gurnell, Mark A1 Bernard, Daniel J. A1 Schoenmakers, Nadia PB Wiley YR 2018 SN 0300-0664 SN 1365-2265 JF Clinical Endocrinology VO 89 IS 6 SP 813 OP 823 LK http://dx.doi.org/https://doi.org/10.1111/cen.13827 DO https://doi.org/10.1111/cen.13827 SF ELIB - SuUB Bremen
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