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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
by
Czibere, Ludwig
,
Burggraf, Siegfried
,
Fleige, Tobias
,
Glück, Birgit
,
Keitel, Lisa Marie
,
Landt, Olfert
,
Durner, Jürgen
,
Röschinger, Wulf
,
Hohenfellner, Katharina
,
Wirth, Brunhilde
,
Müller-Felber, Wolfgang
,
Vill, Katharina
,
Becker, Marc
Published in
European journal of human genetics : EJHG
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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
by
Fleige, Tobias
,
Burggraf, Siegfried
,
Czibere, Ludwig
,
Häring, Julia
,
Glück, Birgit
,
Keitel, Lisa Marie
,
Landt, Olfert
,
Harms, Erik
,
Hohenfellner, Katharina
,
Durner, Jürgen
,
Röschinger, Wulf
,
Becker, Marc
Published in
European journal of human genetics : EJHG
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European Journal Of Human Genetics
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European Journal Of Human Genetics : Ejhg
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Biochemistry & Molecular Biology
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Female
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Gene Deletion
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Genetic Testing - Methods
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Genetic Testing - Standards
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Genetics & Heredity
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Humans
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Infant, Newborn
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Life Sciences & Biomedicine
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Male
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Medical Screening
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Neonatal Screening - Methods
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Neonatal Screening - Standards
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Science & Technology
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Amino Acid Transport Systems, Neutral - Genetics
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Biochemical Markers
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Cystinosis
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Cystinosis - Diagnosis
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Cystinosis - Genetics
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Dried Blood Spot Testing - Methods
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