(Q58923930)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

mandibuloacral dysplasia

1 reference

1 reference

mandibuloacral dysplasia with type A lipodystrophy

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Monica D'Adamo

5

1 reference

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7 January 2020

Valeria Guglielmi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Giovanna Lattanzi

11

1 reference

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7 January 2020

Salvatore Masala

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Giuseppe Novelli

16

1 reference

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7 January 2020

author name string

Francesca Lombardi

1

1 reference

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7 January 2020

Francesca Gullotta

2

1 reference

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7 January 2020

Antonio Filareto

4

1 reference

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7 January 2020

Anne Vielle

6

1 reference

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7 January 2020

Anna Maria Nardone

8

1 reference

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7 January 2020

Valeria Azzolini

9

1 reference

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7 January 2020

Enrico Grosso

10

1 reference

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7 January 2020

Nadir Mario Maraldi

14

1 reference

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7 January 2020

Paolo Sbraccia

15

1 reference

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7 January 2020

Maria Rosaria D'Apice

12

1 reference

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7 January 2020

language of work or name

English

0 references

publication date

11 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

7 January 2020

published in

1 reference

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7 January 2020

volume

92

1 reference

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7 January 2020

page(s)

4467-4471

1 reference

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7 January 2020

issue

11

1 reference

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7 January 2020

Identifiers

DOI

10.1210/JC.2007-0116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17848409%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference