(Q33869675)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

author name string

Chaya Murali

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

James T Lu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Mahim Jain

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

David S Liu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Ralph Lachman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Brendan H Lee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Daniel Cohn

8

1 reference

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9 March 2020

publication date

1 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism Reports

9 March 2020

published in

1 reference

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9 March 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

213-219

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

9 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Congenital disorders of glycosylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

The skeletal manifestations of the congenital disorders of glycosylation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Pseudodiastrophic dysplasia type Burgio in a newborn.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Pseudo-diastrophic dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088274

Pseudodiastrophic dwarfism: a case report

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25019053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Pseudodiastrophic dwarfism. Study of 2 newborn sisters]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25019053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGMR.2014.04.004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

25019053

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25019053%20AND%20SRC:MED&resulttype=core&format=json