(Q52937376)

English

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

scientific article published in August 2005

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

arthrogryposis multiplex with deafness, inguinal hernias, and early death

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1 reference

based on heuristic

inferred from title

Barbara Burwinkel

3

object named as

Barbara Burwinkel

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

author name string

Christian Tiemann

1

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Christoph Bührer

2

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Michael Wirtenberger

4

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Thomas Hoehn

5

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Christoph Hübner

6

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Frank K H van Landeghem

7

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Gisela Stoltenburg

8

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Michael Obladen

9

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

language of work or name

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publication date

1 August 2005

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

137

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

2

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

125-129

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30860

21 January 2018

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30860

21 January 2018

Fatal infantile form of muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30860

21 January 2018

A neonatal form of glycogen storage disease type IV.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30860

21 January 2018

Fatal infantile form of muscle phosphofructokinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30860

21 January 2018

Identifiers

10.1002/AJMG.A.30860

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/16059941

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