(Q51942061)

18 April 2018

title

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (English)

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18 April 2018

author

Henri de la Salle

8

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18 April 2018

Peter Propping

7

object named as

Peter Propping

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18 April 2018

author name string

Dagmar von Bubnoff

1

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18 April 2018

Martina Kreiss-Nachtsheim

2

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18 April 2018

Natalija Novak

3

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18 April 2018

Eva Engels

4

1 reference

18 April 2018

Hartmut Engels

5

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18 April 2018

Claudia Behrend

6

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18 April 2018

Thomas Bieber

9

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18 April 2018

language of work or name

English

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publication date

1 April 2004

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

126A

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18 April 2018

issue

3

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18 April 2018

page(s)

293-298

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18 April 2018

Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Antibacterial activity of human natural killer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

An optimized set of human telomere clones for studying telomere integrity and architecture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

The 11q-- syndrome: another case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Jacobsen's syndrome, thrombopenia and humoral immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

Combined immunodeficiency due to the selective absence of CD4 inducer T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20592

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20592

1 reference

18 April 2018

1 reference

18 April 2018