(Q73906784)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9382147%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain (English)

1 reference

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7 November 2019

main subject

Stüve-Wiedemann syndrome

1 reference

B Chabrol

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9382147%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

S Sigaudy

2

1 reference

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7 November 2019

V Paquis

3

1 reference

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7 November 2019

M F Montfort

4

1 reference

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7 November 2019

H Giudicelli

5

1 reference

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7 November 2019

J F Pellissier

6

1 reference

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7 November 2019

V Millet

7

1 reference

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7 November 2019

J Mancini

8

1 reference

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7 November 2019

N Philip

9

1 reference

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7 November 2019

publication date

1 October 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9382147%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

7 November 2019

published in

1 reference

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7 November 2019

volume

72

1 reference

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7 November 2019

issue

2

1 reference

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7 November 2019

page(s)

222-226

1 reference

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Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

7 November 2019

cites work

1 reference

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Metabolic disorders of embryogenesis

21 January 2018

1 reference

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Malignant hyperthermia: relationship to other diseases

21 January 2018

1 reference

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VACTERL with the mitochondrial np 3243 point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

Campomelic dysplasia. Further elucidation of a distinct entity.

21 January 2018

1 reference

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Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

Shuttling of integrated vectors from mammalian cells to E. coli is mediated by head-to-tail multimeric inserts.

21 January 2018

1 reference

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Clinical presentation of mitochondrial disorders in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

Assessment of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C222%3A%3AAID-AJMG18%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19971017)72:2<222::AID-AJMG18>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

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7 November 2019

1 reference