6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
about
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature reviewPeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneDelineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Structural genomic variation in childhood epilepsies with complex phenotypesEpilepsy and chromosomal abnormalities.Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old ToddlerGenetic forms of epilepsies and other paroxysmal disordersOphthalmologic abnormalities in a de novo terminal 6q deletion.Delineation of subtelomeric deletion of the long arm of chromosome 6.Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter).MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.Ring 14 chromosome presenting as early-onset isolated partial epilepsy.Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Copy number variations in children with brain malformations and refractory epilepsy.
P2860
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P2860
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
description
2006 nî lūn-bûn
@nan
2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
6q terminal deletion syndrome ...... ttern: a report of five cases.
@en
6q terminal deletion syndrome ...... ttern: a report of five cases.
@nl
type
label
6q terminal deletion syndrome ...... ttern: a report of five cases.
@en
6q terminal deletion syndrome ...... ttern: a report of five cases.
@nl
prefLabel
6q terminal deletion syndrome ...... ttern: a report of five cases.
@en
6q terminal deletion syndrome ...... ttern: a report of five cases.
@nl
P2093
P2860
P50
P1433
P1476
6q terminal deletion syndrome ...... ttern: a report of five cases.
@en
P2093
Francesca Faravelli
Mauro Pierluigi
Michela Malacarne
Paola Grammatico
Pasquale Striano
Roberto Gaggero
Salvatore Striano
Silvia Majore
P2860
P304
P356
10.1111/J.1528-1167.2006.00522.X
P50
P577
2006-05-01T00:00:00Z