(Q33593654)

28 July 2017

title

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes (English)

1 reference

28 July 2017

1 reference

DiLiberti JH

1

1 reference

28 July 2017

J. H. DiLiberti

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552544

8 October 2022

language of work or name

English

0 references

publication date

1 January 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015821

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552544

https://europepmc.org/articles/PMC1015821?pdf=render

8 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552544

Journal of Medical Genetics

8 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

46-49

1 reference

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015821

Macrocephaly with hamartomas: Bannayan-Zonana syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015821

Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015821

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015821

Needle muscle biopsy in infants and children.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015821

Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1552544

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1552544

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.1.46

1 reference

release_yj2j4j5zdjbl5d4nolqriuzsd4

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yj2j4j5zdjbl5d4nolqriuzsd4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1015821

1 reference

28 July 2017

1 reference