Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar (Q33329383)

25 July 2017

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar (English)

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25 July 2017

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6

Dror Y

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25 July 2017

7

Freedman M

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25 July 2017

Ginzberg H

1

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25 July 2017

Shin J

2

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25 July 2017

Ellis L

3

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25 July 2017

Morrison J

4

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25 July 2017

Ip W

5

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25 July 2017

Heitlinger LA

8

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25 July 2017

Belt MA

9

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25 July 2017

Corey M

10

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25 July 2017

Rommens JM

11

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25 July 2017

Durie PR

12

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25 July 2017

language of work or name

English

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publication date

1 July 1999

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The Journal of Pediatrics

25 July 2017

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25 July 2017

135

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25 July 2017

1

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25 July 2017

81-88

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THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

25 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Shwachman's syndrome. A review of 21 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

The occurrence of leukemia in patients with the Shwachman syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Haematological abnormalities in Shwachman-Diamond syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Association of pancreatic insufficiency and chronic neutropenia in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Metaphyseal chondrodysplasia with dwarfism, panreatic insufficiency and neutropenia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

The Syndrome of Congenital Pancreatic Insufficiency, Chronic Respiratory Disease and Chronic Liver Damage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Psychological characteristics of children with Shwachman syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Relations between Pancreatic Enzyme Outputs and Malabsorption in Severe Pancreatic Insufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Serum immunoreactive cationic trypsinogen: a useful indicator of severe exocrine dysfunction in the paediatric patient without cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Duplication of distal thumb phalanx in Shwachman-Diamond syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Bone marrow transplantation in Shwachman-Diamond syndrome: report of two cases and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

Syndrome of Shwachman and Leukaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970332-X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(99)70332-X

1 reference

release_terjimy265htveoj7qpd5i2oeu

25 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/terjimy265htveoj7qpd5i2oeu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference