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[Anonymous]
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Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
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Claudia Stendel et al.
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Kristel Sleegers et al.
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SS Scherer
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MM Ryan et al.
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Y Parman et al.
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M Pitt et al.
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J Senderek et al.
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E Nelis et al.
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V Plante-Bordeneuve et al.
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E Nelis et al.
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H Takashima et al.
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Chronic inflammatory demyelinating polyneuropathy in childhood
AM Connolly
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Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy
C Ceuterick-de Groote et al.
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A Bolino et al.
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Peripheral motor and sensory nerve conduction studies in normal infants and children
A Garcia et al.
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