Results
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1.
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Cortical malformations and COL4A1 mutation: Three new cases. [electronic resource] by
- Vitale, G
- Pichiecchio, A
- Ormitti, F
- Tonduti, D
- Asaro, A
- Farina, L
- Piccolo, B
- Percesepe, A
- Bastianello, S
- Orcesi, S
Producer: 20190722
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 23
Availability: No items available.
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2.
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Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient. [electronic resource] by
- Olivieri, I
- Cattalini, M
- Tonduti, D
- La Piana, R
- Uggetti, C
- Galli, J
- Meini, A
- Tincani, A
- Moratto, D
- Fazzi, E
- Balottin, U
- Orcesi, S
Producer: 20140424
In:
Lupus vol. 22
Availability: No items available.
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3.
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Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration. [electronic resource] by
- Kraoua, I
- Romani, M
- Tonduti, D
- BenRhouma, H
- Zorzi, G
- Zibordi, F
- Ardissone, A
- Gouider-Khouja, N
- Ben Youssef-Turki, I
- Nardocci, N
- Valente, E M
Producer: 20160725
In:
European journal of neurology vol. 23
Availability: No items available.
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4.
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COL4A1 mutations associated with a characteristic pattern of intracranial calcification. [electronic resource] by
- Livingston, J
- Doherty, D
- Orcesi, S
- Tonduti, D
- Piechiecchio, A
- La Piana, R
- Tournier-Lasserve, E
- Majumdar, A
- Tomkins, S
- Rice, G
- Kneen, R
- van der Knaap, M
- Crow, Y
Producer: 20120403
In:
Neuropediatrics vol. 42
Availability: No items available.
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5.
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. [electronic resource] by
- Brun, L
- Ngu, L H
- Keng, W T
- Ch'ng, G S
- Choy, Y S
- Hwu, W L
- Lee, W T
- Willemsen, M A A P
- Verbeek, M M
- Wassenberg, T
- Régal, L
- Orcesi, S
- Tonduti, D
- Accorsi, P
- Testard, H
- Abdenur, J E
- Tay, S
- Allen, G F
- Heales, S
- Kern, I
- Kato, M
- Burlina, A
- Manegold, C
- Hoffmann, G F
- Blau, N
Producer: 20100720
In:
Neurology vol. 75
Availability: No items available.
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