Concepedia
Analytical Biochemistry · 2011 · 12 citations · 9 references
Life SciencesGeneticsMolecular GeneticsGenomicsMachine LearningSequence AnalysisFalse PositivesSequence Pattern RecognitionFalse Positive Findings
9
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text
Life Sciences, Genetics, Molecular Biology +16
Measurement of locus copy number by hybridisation with amplifiable probes
John A.L. Armour · Nucleic Acids Research · 2000 · 209 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
Christian Beetz, Rebecca Schüle, Tine Deconinck et al. · Brain · 2008 · 180 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
<i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Carla Marini, Ingrid E. Scheffer, Rima Nabbout et al. · Epilepsia · 2009 · 172 citations · Full text
High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia
Christian Beetz, Anders O.H. Nygren, Jörg Schickel et al. · Neurology · 2006 · 140 citations