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G.P.3.09 Cerebellar ataxia, myopathy and sensorimotor neuropathy associated with a mitochondrial m.8363G > A tRNA(Lys) gene mutation: A clinical and biochemical study
by
Brusse, E
,
Korsten, A
,
Schoonderwoerd, G
,
Hellebrekers, D
,
Maat-Kievit, J.A
,
Smeets, H.J.M
,
Coo, I.F.M. De
Published in
Neuromuscular disorders : NMD
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Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2)
by
Mayer, Karin
,
Fonatsch, Christa
,
Wimmer, Katharina
,
van den Ouweland, Ans M W
,
Maat-Kievit, Anneke J A
Published in
European journal of human genetics : EJHG
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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
by
van den Ouweland, Ans M W
,
Elfferich, Peter
,
Zonnenberg, Bernard A
,
Arts, Willem F
,
Kleefstra, Tjitske
,
Nellist, Mark D
,
Millan, Jose M
,
Withagen-Hermans, Caroline
,
Maat-Kievit, Anneke J A
,
Halley, Dicky J J
Published in
European journal of human genetics : EJHG
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European Journal Of Human Genetics : Ejhg
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Neuromuscular Disorders : Nmd
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Biochemistry & Molecular Biology
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Dna Mutational Analysis
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Tuberous Sclerosis - Diagnosis
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Tuberous Sclerosis - Genetics
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631/208/2489/144
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631/208/737
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692/699/375/365
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