(Q52237907)

English

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

scientific article published in February 1991

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

microdeletion syndrome

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

muscular dystrophy

1 reference

based on heuristic

inferred from title

Manfred Stuhrmann

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

3

object named as

A Reis

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

author name string

H Heilbronner

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

R D Wegner

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

P Fischer

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

J Schmidtke

6

1 reference

Europe PubMed Central

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22 September 2019

publication date

1 February 1991

1 reference

Europe PubMed Central

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22 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

86

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

414-415

1 reference

Europe PubMed Central

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22 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00201848

0 references

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1999345

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201848

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999345%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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