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E. Pasmant et al.
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
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Y-M Hur et al.
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Sofie De Schepper et al.
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Hilde Brems et al.
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Ophelia Maertens et al.
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A. McCoughan et al.
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M. Upadhyaya et al.
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Abee L. Boyles et al.
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Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
DR Bertola et al.
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K Khosrotehrani et al.
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Intelligence in individuals with a neurofibromatosis type 1 microdeletion
MJ Descheemaeker et al.
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M Venturin et al.
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Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1
MA Blazo et al.
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E Ars et al.
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T De Raedt et al.
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Neurofibromatosis type 1 and sporadic optic gliomas
S Singhal et al.
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Malignant peripheral nerve sheath tumours in neurofibromatosis 1
DGR Evans et al.
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Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging
J Meadows et al.
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E Ars et al.
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