Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

about

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

P2860

Q33967982-3A6E4F13-E420-4F4D-9CF5-D57BF60CB356 Q50302375-9DFB25FB-43BF-460C-82C5-D9E5BCB7B7D0

P2860

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

Item

http://www.wikidata.org/entity/Q51946915

description

2003 nî lūn-bûn

@nan

2003年の論文

@ja

2003年学术文章

@wuu

2003年学术文章

@zh

2003年学术文章

@zh-cn

2003年学术文章

@zh-hans

2003年学术文章

@zh-my

2003年学术文章

@zh-sg

2003年學術文章

@yue

2003年學術文章

@zh-hant

name

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@en

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@nl

type

Item

label

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@en

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@nl

prefLabel

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@en

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@nl

P1476

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

@en

P2093

Christian Herens

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

Fermina López

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

José Santos Muñoz

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

Laura Rodríguez

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

María Luisa Martínez-Frías

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

Mauricette Jamar

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

Nieves Martínez Guardia

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

P2860

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

Subtle chromosomal rearrangements in children with unexplained mental retardation

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Two 22q telomere deletions serendipitously detected by FISH

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Detecting rearrangements in children using subtelomeric FISH and SKY.

P304

119-124

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

P31

scholarly article

P356

10.1002/AJMG.A.20243

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

P407

English

P433

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

P478

122A

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

P50

Alain Verloes

P577

2003-10-01T00:00:00Z

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

P698

12955763

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

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

about

P2860

P2860

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698