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Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids. [electronic resource] by
- Kraya, Torsten
- Quandt, Dagmar
- Pfirrmann, Thorsten
- Kindermann, Andrea
- Lampe, Leonie
- Schroeter, Matthias L
- Kohlhase, Jürgen
- Stoevesandt, Dietrich
- Hoffmann, Katrin
- Villavicencio-Lorini, Pablo
Producer: 20190521
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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388.
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389.
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390.
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Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy. [electronic resource] by
- Outteryck, Olivier
- de Sèze, Jérôme
- Stojkovic, Tanya
- Cuisset, Jean-Marie
- Dobbelaere, Dries
- Delalande, Sophie
- Lacour, Arnaud
- Cabaret, Marilyne
- Lepoutre, Anne-Catherine
- Deramecourt, Vincent
- Zéphir, Hélène
- Fowler, Brian
- Vermersch, Patrick
Producer: 20121024
In:
Neurology vol. 79
Availability: No items available.
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391.
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392.
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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. [electronic resource] by
- Kevelam, Sietske H
- Rodenburg, Richard J
- Wolf, Nicole I
- Ferreira, Patrick
- Lunsing, Roelineke J
- Nijtmans, Leo G
- Mitchell, Anne
- Arroyo, Hugo A
- Rating, Dietz
- Vanderver, Adeline
- van Berkel, Carola G M
- Abbink, Truus E M
- Heutink, Peter
- van der Knaap, Marjo S
Producer: 20130614
In:
Neurology vol. 80
Availability: No items available.
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