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Author/Creator Tenorio, J.

1. A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. (7th January 2015)

Authors:
Tenorio, J.; Navas, P.; Barrios, E.; Fernández, L.; Nevado, J.; Quezada, C.A.; López‐Meseguer, M.; Arias, P.; Mena, R.; Lobo, J.L.; Alvarez, C.; Heath, K.; Escribano‐Subías, P.; Lapunzina, P.
Journal:
Clinical genetics
Issue:
Volume 88:Number 6(2015:Dec.)
Page Start:
579
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. Issue 12 (9th October 2020)

Authors:
Mulder, P. A.; van Balkom, I. D. C.; Landlust, A. M.; Priolo, M.; Menke, L. A.; Acero, I. H.; Alkuraya, F. S.; Arias, P.; Bernardini, L.; Bijlsma, E. K.; Cole, T.; Coubes, C.; Dapia, I.; Davies, S.; Di Donato, N.; Elcioglu, N. H.; Fahrner, J. A.; Foster, A.; González, N. G.; Huber, I.
Journal:
Journal of intellectual disability research
Issue:
Volume 64:Issue 12(2020)
Page Start:
956
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. MTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review. Issue 4 (13th February 2018)

Authors:
Gordo, G.; Tenorio, J.; Arias, P.; Santos‐Simarro, F.; García‐Miñaur, S.; Moreno, J.C.; Nevado, J.; Vallespin, E.; Rodriguez‐Laguna, L.; de Mena, R.; Dapia, I.; Palomares‐Bralo, M.; del Pozo, Á.; Ibañez, K.; Silla, J.C.; Barroso, E.; Ruiz‐Pérez, V.L.; Martinez‐Glez, V.; Lapunzina, P.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 4(2018)
Page Start:
762
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗