Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. - Wikidata - awgldk - TriplyDB

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

http://www.wikidata.org/entity/Q33647996

about

Thoracolumbar scoliosis posterior approach Phenotype analysis impacts testing strategy in patients with Currarino syndrome.Currarino syndrome: report of five consecutive patients.Currarino's triad diagnosed in an adult woman.Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.

P2860

Q36013181-1ED24947-4960-4C67-BBD6-40D7F814563A Q38359464-9E80C726-E2E8-472C-A7DB-CB1B4F3C69DE Q46336496-4EAE77D3-B3E4-4A18-8A4D-BADB83345463 Q51344572-4CF0317F-CBF4-4F02-882A-F971A8E7DDE1 Q52385020-FCF4161A-4E8C-4F4B-ADCA-9A1E0CA1CFDA Q53774366-57F47244-E246-40EA-BA37-3A251587E151 Q55173410-3F43743C-3739-4285-9575-4A7D17FD91C7

P2860

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

http://www.wikidata.org/entity/Q33647996

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@ast

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@en

type

label

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@ast

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@en

prefLabel

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@ast

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@en

P1433

Q33647996-8AC36014-840E-418D-AA5C-5E83FB5D7E37

P1476

Q33647996-C08E1EF9-2369-4061-899C-9C88500A2F0D

P2093

Q33647996-26D3BC36-C677-4538-B530-62E6478F2B67

Q33647996-2E63AB4A-2B1B-4872-BEBB-67288ED7E2BE

Q33647996-5E4056B1-C234-4F12-8714-ADF576AC99C7

Q33647996-7F86ED38-2103-49B2-A340-7550BA29C1C7

Q33647996-87D6AC0A-35FA-495B-B215-EF807032AFCC

Q33647996-8E5CFE15-1034-44F4-9FFB-D7289C4CA43F

Q33647996-CDBC2497-7875-43AE-9335-CAA7E51CB5B3

Q33647996-F4E130C2-20E9-41D8-B438-5C5E51BC3042

P2860

Q33647996-0462588D-7E89-45AB-9600-B9B5B79AF62B

Q33647996-0584986D-2A95-4D89-AAF4-5A74DD6423C7

Q33647996-0D4091D3-51D8-43E9-B5D7-E4D3B4E5AFB7

Q33647996-10308248-64C4-4A40-BA97-10B78B487DD5

Q33647996-1A4D99A1-2955-4BA4-9197-C0B2A982E0EF

Q33647996-1C4E1159-41F9-41A1-8FB7-0D8332A3F9D1

Q33647996-2585B9B5-8A50-477F-AA33-9035741016CD

Q33647996-30C47498-79BF-49F7-BEA1-4955CE636A97

Q33647996-3A6DDD14-09CB-43E6-A368-6D085E6721BD

Q33647996-3E93B3A4-6194-4DBB-877A-79CDB98FB9B7

P2888

Q33647996-C2AE38C9-1520-4321-8492-B92DEA0B9372

P304

Q33647996-C4F6D593-A848-40C3-A830-89E1912C8BE5

P31

Q33647996-CCB8F68F-9E2C-4CA9-871A-4C2A9F9E08EC

P356

Q33647996-D36DDA09-8F5F-441E-874A-E7392536A7CD

P433

Q33647996-0431AE03-86BC-4724-B523-B1BA588CD513

P478

Q33647996-22301755-378C-4028-A1AA-CD64686F5E08

P50

Q33647996-14F11CD7-8493-46D3-B51E-BA0352E57FE2

Q33647996-8DD1B2BB-C680-4107-9F8E-CD3BA23C4827

Q33647996-CF2D5A42-34F0-4F33-9B3C-341CF824CBB9

Q33647996-EF147ADD-5685-4DE5-BCEE-BF924029AF0A

P577

Q33647996-D4653CDC-2A6E-4184-871C-7967F01D4135

P5875

Q33647996-F8311A3E-2F43-4C75-9212-70B326D19F2A

P6179

Q33647996-D13D4EA0-C6DE-4F8A-B6F1-9CADAF3DE7FA

P698

Q33647996-9F1198D0-4FA4-4ADE-8946-EC1B8DA4B51E

P921

Q33647996-B5A3BB73-1F29-472F-812E-E35BD719517C

P932

Q33647996-553A3D10-C34F-4C00-BF32-3DFF016CF5D7

P356

S00431-009-1061-6

P1433

European Journal of Pediatrics

P1476

Microcephaly, sensorineural de ...... ication-deletion of distal 7q.

@en

P2093

Danilo Castellano-Chiodo

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

Gemma Incorpora

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

Ilaria Lombardo

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

Jyotsna Sudi

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

Lorenzo Pavone

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

Norma J Nowak

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

Roberta Biancheri

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

Susan L Christian

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

P2860

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Involvement of the HLXB9 homeobox gene in Currarino syndrome

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

Autosomal dominant sacral agenesis: Currarino syndrome.

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly

Currarino syndrome: proposal of a diagnostic and therapeutic protocol.

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

P2888

s00431-009-1061-6

P304

475-481

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

P31

scholarly article

P356

10.1007/S00431-009-1061-6

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

P433

4

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

P478

169

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

P50

William B. Dobyns

Martino Ruggieri

P577

2009-10-17T00:00:00Z

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

P5875

38019872

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

P6179

1012718187

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

P698

19838731

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

P921

P932

2820683

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