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Author/Creator Poretti, A.

1. OC21.02: Brainstem malformations in severe fetal ventriculomegaly. (15th October 2018)

Authors:
Haratz, K.K.; Leibovitz, Z.; Oliveira, P.S.; Malinger, G.; Moron, A.F.; Gindes, L.; Lev, D.; Tamarkin, M.; Shalev, Y.; Raz, N.; Dafna, L.; Har‐Toov, J.; Poretti, A.; Lerman‐Sagie, T.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 52(2018)Supplement 1
Page Start:
50
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Issue 5 (10th October 2016)

Authors:
Cohen, J.S.; Srivastava, S.; Farwell Hagman, K.D.; Shinde, D.N.; Huether, R.; Darcy, D.; Wallerstein, R.; Houge, G.; Berland, S.; Monaghan, K.G.; Poretti, A.; Wilson, A.L.; Chung, W.K.; Fatemi, A.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 5(2017)
Page Start:
697
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Clinical, radiological and genetic characterization of PLA2G6-associated neurodegeneration. (June 2017)

Authors:
Darling, A.; Aguilera Albesa, S.; Tomás Vila, M.; Camino León, R.; Fernández Ramos, J.; Jimenez Escrig, A.; O'Callaghan, M.; Ortez, C.; Nascimento, A.; Candau Fernández Mesaque, R.; Madruga, M.; Arrabal, L.; Roldan, S.; Garrido, C.; Tello, C.A.; Lupo, V.; Huisman, T.A.G.M.; Poretti, A.; Espinós, ...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e176
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG). (June 2017)

Authors:
Serrano, M.; de Diego, V.; Martínez-Montseny, A.F.; Cuadras, D.; Muchart, J.; Velázquez-Fragua, R.; López, L.; Gutiérrez-Solana, L.G.; Felipe, A.; Macaya, A.; Cancho, R.; Carrasco, M.Ll.; Carratalá, F.; Miranda, M.C.; Lopez-Laso, E.; Sierra-Córcoles, M.C.; Couce, M.L.; Quijada-Fraile, P.; García,...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e124
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. OC06.02: Prenatal diagnosis of brainstem anomalies: phenotypic spectrum and neuroimaging features. (September 2017)

Authors:
Haratz, K.K.; Leibovitz, Z.; Oliveira, P.S.; Gindes, L.; Raz, N.; Dafna, L.; Tamarkin, M.; Shalev, Y.; Malinger, G.; Schreiber, L.; Kidron, D.; Arad, A.; Egenburg, S.; Lev, D.; Ben‐Sira, L.; Moron, A.F.; Kasprian, G.; Prayer, D.; Viñals, F.; Fink, A.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 50(2017)Supplement 1
Page Start:
11
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. OP14.11: Prenatal diagnosis of medullary tegmental cap dysplasia: a rare disorder of axonal guidance. (September 2017)

Authors:
Haratz, K.K.; Muqari, M.; Leibovitz, Z.; Ben‐Sira, L.; Garel, C.; Gindes, L.; Malinger, G.; Lev, D.; Tamarkin, M.; Shalev, Y.; Arad, A.; Egenburg, S.; Poretti, A.; Lerman‐Sagie, T.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 50(2017)Supplement 1
Page Start:
95
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗