(Q58061326)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690381%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

review article

1 reference

title

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome (English)

1 reference

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8 January 2020

5

1 reference

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8 January 2020

Lars A Larsen

6

1 reference

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8 January 2020

Niels Tommerup

7

1 reference

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8 January 2020

Zeynep Tumer

9

1 reference

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8 January 2020

author name string

Boonen SE

1

1 reference

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8 January 2020

Stahl D

2

1 reference

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8 January 2020

Kreiborg S

3

1 reference

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8 January 2020

Rosenberg T

4

1 reference

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8 January 2020

Brøndum-Nielsen K

8

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8 January 2020

language of work or name

English

0 references

publication date

1 January 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690381%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

8 January 2020

published in

1 reference

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8 January 2020

volume

132A

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8 January 2020

issue

3

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8 January 2020

page(s)

324-328

1 reference

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One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Craniofacial morphology in the nevoid basal cell carcinoma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Clinical, radiologic, and histopathologic aspects of 13 cases of nevoid basal cell carcinoma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30422

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690381%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference