(Q30495367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

A V Hing

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

V Sheen-Kaniecki

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M S Watson

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 May 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

414-417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Hoxc-9 mutant mice show anterior transformation of the vertebrae and malformation of the sternum and ribs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

The 1993-94 Généthon human genetic linkage map

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Spondylothoracic dysplasia--a syndrome of congenital anomalies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Bizarre Deformities in Offspring of User of Lysergic Acid Diethylamide

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

A simple salting out procedure for extracting DNA from human nucleated cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Spondylocostal dysplasia and neural tube defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Spondylothoracic dysostosis: report of two cases and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050950

Another case of spondylocostal dysplasia and severe anomalies

20 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9152840

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of clinical variation seen in patients with 18q terminal deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9152840

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9152840

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.5.414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9152840%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

9152840

1 reference