about
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Translation, cross-cultural adaptation, and validation of the Bulgarian version of the Liverpool Adverse Event Profile.Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.Bowel obstruction in patients with Alpers-Huttenlocher syndrome.Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?Zum intrauterinen Fruchttod führendes fetales Rhabdomyosarkom mit ausgeprägter cardialer und placentarer Infiltration
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
ricercatrice
@it
հետազոտող
@hy
name
Irina Stefanova
@ast
Irina Stefanova
@en
Irina Stefanova
@es
Irina Stefanova
@nl
Irina Stefanova
@sl
type
label
Irina Stefanova
@ast
Irina Stefanova
@en
Irina Stefanova
@es
Irina Stefanova
@nl
Irina Stefanova
@sl
prefLabel
Irina Stefanova
@ast
Irina Stefanova
@en
Irina Stefanova
@es
Irina Stefanova
@nl
Irina Stefanova
@sl
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36009465800
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P496
0000-0002-1391-1802
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viaf-81340335