(Q70827940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

A deletion in chromosome 22 can cause DiGeorge syndrome (English)

1 reference

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14 October 2019

1 reference

Albert de la Chapelle

1

object named as

A de la Chapelle

1 reference

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14 October 2019

author name string

R Herva

2

1 reference

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14 October 2019

M Koivisto

3

1 reference

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14 October 2019

P Aula

4

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14 October 2019

publication date

1 January 1981

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14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

57

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14 October 2019

issue

3

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14 October 2019

page(s)

253-256

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Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

14 October 2019

cites work

1 reference

12 December 2020

Monosomy of chromosome No. 22. A case report.

1 reference

12 December 2020

Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9

1 reference

12 December 2020

Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22.

1 reference

12 December 2020

Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome

1 reference

12 December 2020

Chromosome deletion and multiple cartilaginous exostoses

1 reference

12 December 2020

The spectrum of the DiGeorge syndrome

1 reference

12 December 2020

Foetal thymic transplant in a case of Digeorge's syndrome.

1 reference

12 December 2020

Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome

1 reference

12 December 2020

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

1 reference

12 December 2020

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

12 December 2020

Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber

1 reference

12 December 2020

1 reference

12 December 2020

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

12 December 2020

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion

1 reference

12 December 2020

Developmental terms—some proposals: First report of an International working group

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00278938

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference