(Q68859194)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2373110%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

title

Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2373110%20AND%20SRC:MED&resulttype=core&format=json

Severe mental retardation

28 September 2019

main subject

1 reference

2

P Jongbloet

1 reference

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28 September 2019

author name string

A Hamers

1

1 reference

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28 September 2019

G Peeters

3

1 reference

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28 September 2019

J P Fryns

4

1 reference

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28 September 2019

J Geraedts

5

1 reference

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28 September 2019

publication date

1 June 1990

1 reference

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European Journal of Pediatrics

28 September 2019

published in

1 reference

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28 September 2019

volume

149

1 reference

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28 September 2019

issue

9

1 reference

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28 September 2019

page(s)

618-620

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf02034746

28 September 2019

exact match

0 references

cites work

Tricho-rhino-phalangeal syndrome type II. The Langer-Giedion syndrome

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome

1 reference

12 December 2020

Langer-Giedion syndrome

1 reference

12 December 2020

Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)

1 reference

12 December 2020

The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

1 reference

12 December 2020

Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases

1 reference

12 December 2020

Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23

1 reference

12 December 2020

Chromosome deletion and multiple cartilaginous exostoses

1 reference

12 December 2020

Mid-prophase human chromosomes. The attainment of 2000 bands

1 reference

12 December 2020

8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland

1 reference

12 December 2020

[Tricho-rhino-phalangeal syndrome. Four family cases]

1 reference

12 December 2020

A final word on the tricho-rhino-phalangeal syndromes

1 reference

12 December 2020

Banding of human chromosomes with basic fuchsin

1 reference

12 December 2020

New clinical observations in the trichorhinophalangeal syndrome.

1 reference

12 December 2020

The trichorhinophalangeal syndrome. Report of 4 familial cases belonging to 4 generations.

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02034746

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2373110%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

1 reference