about
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.Array CGH analysis of a cohort of Russian patients with intellectual disability.Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Anna A Kashevarova
@ast
Anna A Kashevarova
@es
Anna A Kashevarova
@nl
Anna Alexandrowna Kaschewarowa
@de
Anna Kashevarova
@en
Анна Александровна Кашеварова
@ru
type
label
Anna A Kashevarova
@ast
Anna A Kashevarova
@es
Anna A Kashevarova
@nl
Anna Alexandrowna Kaschewarowa
@de
Anna Kashevarova
@en
Анна Александровна Кашеварова
@ru
altLabel
Anna A Kashevarova
@en
Anna Aleksandrovna Kashevarova
@en
Anna Kaschewarowa
@de
prefLabel
Anna A Kashevarova
@ast
Anna A Kashevarova
@es
Anna A Kashevarova
@nl
Anna Alexandrowna Kaschewarowa
@de
Anna Kashevarova
@en
Анна Александровна Кашеварова
@ru
P106
P1153
16686523700
P21
P31
P496
0000-0002-0716-4302