about
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Rare copy number variants contribute to congenital left-sided heart disease.Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.Refining the phenotype associated with biallelic DNAJC21 mutations.Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityCorrection: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart DiseaseA variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
P50
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P50
description
hulumtuese
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wetenschapper
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հետազոտող
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name
Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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type
label
Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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Guylaine D'Amours
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P1053
A-1284-2016
P106
P21
P31
P3829
P496
0000-0002-1068-3154
P569
2000-01-01T00:00:00Z