(Q52077088)

21 April 2018

title

Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27). (English)

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21 April 2018

author name string

Tranebjaerg L

series ordinal

1

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21 April 2018

Sjø O

series ordinal

2

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21 April 2018

Warburg M

series ordinal

3

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21 April 2018

publication date

1 December 1986

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21 April 2018

Ophthalmic Paediatrics and Genetics

published in

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21 April 2018

volume

7

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21 April 2018

issue

3

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21 April 2018

page(s)

167-173

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21 April 2018

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B

cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

21 January 2018

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https://api.crossref.org/works/10.3109%2F13816818609004134

Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

Replication pattern of the X chromosomes in three X/autosomal translocations.

21 January 2018

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https://api.crossref.org/works/10.3109%2F13816818609004134

Deletion of the distal long arm of chromosome 1: a definable syndrome

21 January 2018

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https://api.crossref.org/works/10.3109%2F13816818609004134

Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

High Resolution of Human Chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816818609004134

10.3109/13816818609004134

21 January 2018

Identifiers

DOI

1 reference

21 April 2018

1 reference

21 April 2018