(Q51886352)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18798846%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes (English)

1 reference

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14 January 2020

1

1 reference

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14 January 2020

Donatella Milani

7

1 reference

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14 January 2020

author name string

R Pfundt

2

1 reference

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14 January 2020

P Castronovo

3

1 reference

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14 January 2020

S Russo

4

1 reference

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14 January 2020

G Roversi

5

1 reference

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14 January 2020

M Masciadri

6

1 reference

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14 January 2020

G Zampino

8

1 reference

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14 January 2020

A Selicorni

9

1 reference

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14 January 2020

E F P M Schoenmakers

10

1 reference

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14 January 2020

L Larizza

11

1 reference

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14 January 2020

publication date

16 September 2008

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14 January 2020

1 reference

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14 January 2020

volume

74

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14 January 2020

issue

6

1 reference

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14 January 2020

page(s)

531-538

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Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

14 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01086.X

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01086.X

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01086.X

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01086.X

10.1111/J.1399-0004.2008.01086.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18798846%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference