(Q41123138)

27 September 2017

title

Familial neurofibromatosis type 1: clinical experience with DNA testing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347082

16 September 2022

1

K. J. Hofman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347082

16 September 2022

author name string

C. D. Boehm

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1347082

16 September 2022

language of work or name

English

0 references

publication date

1 March 1992

1 reference

The Journal of Pediatrics

27 September 2017

published in

1 reference

27 September 2017

volume

120

1 reference

27 September 2017

issue

3

1 reference

27 September 2017

page(s)

394-398

1 reference

Segregation analysis of peripheral neurofibromatosis (NF1)

27 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

On the mutation rate of neurofibromatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

Physical mapping of a translocation breakpoint in neurofibromatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

Lisch nodules in neurofibromatosis type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

The morbidity of cardiac nondisease in schoolchildren

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

Labelling in hypertension: a review of the behavioural and psychological consequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

The decision to be tested for Huntington's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980903-5

10.1016/S0022-3476(05)80903-5

7 January 2021

Identifiers

DOI

1 reference

27 September 2017

1 reference