about
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsHow to use… microarray comparative genomic hybridisation to investigate developmental disorders.A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
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հետազոտող
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name
Mira Kharbanda
@ast
Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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type
label
Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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prefLabel
Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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Mira Kharbanda
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P106
P21
P31
P3835
mira-kharbanda2
P496
0000-0001-7347-4176