Periventricular heterotopia in common microdeletion syndromes - Wikidata - wikimedia - TriplyDB

Periventricular heterotopia in common microdeletion syndromes

Periventricular heterotopia in common microdeletion syndromes

http://www.wikidata.org/entity/Q33906648

about

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene Malformations of Cortical Development: From Postnatal to Fetal Imaging.A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.Co-occurring malformations of cortical development and SCN1A gene mutations.A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.Williams-Beuren syndrome in diverse populations.

P2860

Q28081179-E7128F56-495C-4C24-B8DA-2329885131B8 Q28581093-38153E74-0AB6-4DBF-84B0-850C8307F6C6 Q31133197-16B5F809-E9A2-49D4-B8C2-5F08CA45CBF1 Q35054597-E718210D-B3D7-436C-B6E9-305C4AFC0C48 Q40204590-F44640D9-9044-4E6B-BF20-C3CDC31CB59B Q47245889-C60F568F-C6DB-448D-AA94-3083C5CE2DEC Q52912079-8B405409-A16A-4F01-A4E6-1EC06EBEF674 Q53690770-4B7E3DEB-A736-41D1-8B7B-7FC2124EBDB8

P2860

Periventricular heterotopia in common microdeletion syndromes

http://www.wikidata.org/entity/Q33906648

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Periventricular heterotopia in common microdeletion syndromes

@ast

Periventricular heterotopia in common microdeletion syndromes

@en

type

label

Periventricular heterotopia in common microdeletion syndromes

@ast

Periventricular heterotopia in common microdeletion syndromes

@en

prefLabel

Periventricular heterotopia in common microdeletion syndromes

@ast

Periventricular heterotopia in common microdeletion syndromes

@en

P1433

Q33906648-A269DB9A-847A-4890-8101-B67098E4D594

P1476

Q33906648-E354D444-7CCD-4CC1-8E3A-77939116601B

P2093

Q33906648-004AC16E-2197-4ED5-A49C-CB85D3A16B20

Q33906648-012E57CA-56CF-4E82-A87A-CEC87EB4E060

Q33906648-07868B60-A772-4278-BD44-DAB0A74B0485

Q33906648-7CAA4B01-BD30-4C24-A0B6-4408F6204C5A

Q33906648-85A92C58-0D1B-4865-9F1A-0BDC52A5DDEB

Q33906648-94BFDB6F-4C65-43F1-AF81-2D5A47708D0F

Q33906648-98B4D490-6AA5-4FB8-89E5-488ACCE99E71

Q33906648-9B9CD3E5-2D47-4FC6-B95F-E1F242B1D0E4

Q33906648-B32CCD0B-9999-49A4-BE8A-09B1D68814B2

Q33906648-D891CC66-A3BB-4F46-9274-893C2BF005CC

P2860

Q33906648-077745DE-3101-449C-8297-F81B88C66ECF

Q33906648-0D85C910-087E-4B1F-B29F-075FD05D0CD8

Q33906648-14772559-34F0-4D2C-9D54-0DA70BD2EE65

Q33906648-1CE77A79-14D4-4E0C-8106-6C292FEF25F8

Q33906648-329FB4D9-DA73-45F0-A5C1-DB914C7D0E53

Q33906648-3F413B84-EDF1-4977-A6DC-1733023EC23C

Q33906648-43D63394-5E86-42DD-BDD0-A8FEA0FDF830

Q33906648-5184E81A-9855-4725-9642-C6550F3E2D50

Q33906648-54082759-5E93-42A8-92DC-E4FE2014654A

Q33906648-58C643EB-8DBB-42CF-9066-340876938D16

P304

Q33906648-A8B610C3-6FB7-4E51-988A-36B7A73462C0

P31

Q33906648-3FACE659-96CD-4C67-BA5A-5D3BE5AA55B7

P356

Q33906648-6902B74D-D4EB-4E32-B703-C66F1AD344E6

P433

Q33906648-7C7F427F-456D-4336-ACF1-951F9FB4DE0F

P478

Q33906648-82C98160-F1CE-45A8-989E-4ABF9E08D978

P50

Q33906648-66339A18-218B-47E0-85E9-0AE11A99954D

Q33906648-82EEF606-CAED-44B9-AC5B-E06CB36E40CE

P577

Q33906648-FE3DA581-3F7A-470D-91C8-FD69E95D1CE7

P5875

Q33906648-856CD5B8-075F-4C33-A5FB-4C290EB2F817

P698

Q33906648-2E59985F-92FA-4E8A-923D-ADFD73B0FA06

P932

Q33906648-EFBAB92C-9AA8-4D2D-917A-404F88E2793B

P356

P1433

Molecular syndromology

P1476

Periventricular heterotopia in common microdeletion syndromes

@en

P2093

A P de Brouwer

http://www.w3.org/2001/XMLSchema#string

D Bruno

http://www.w3.org/2001/XMLSchema#string

G McGillivray

http://www.w3.org/2001/XMLSchema#string

H van Bokhoven

http://www.w3.org/2001/XMLSchema#string

J A Veltman

http://www.w3.org/2001/XMLSchema#string

J Nelson

http://www.w3.org/2001/XMLSchema#string

K Macdermot

http://www.w3.org/2001/XMLSchema#string

L Nagarajan

http://www.w3.org/2001/XMLSchema#string

M van Kogelenberg

http://www.w3.org/2001/XMLSchema#string

R J McKinlay Gardner

http://www.w3.org/2001/XMLSchema#string

P2860

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry.

Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.

Neuropathologic features in adults with 22q11.2 deletion syndrome.

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Identification of disease genes by whole genome CGH arrays.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Monosomy 1p36 deletion syndrome.

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays.

P304

35-41

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1159/000274491

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

1

http://www.w3.org/2001/XMLSchema#string

P50

Stephen Robertson

P577

2010-01-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

45279322

http://www.w3.org/2001/XMLSchema#string

P698

20648244

http://www.w3.org/2001/XMLSchema#string

P932

2883850

http://www.w3.org/2001/XMLSchema#string