Tandem duplication (5q13→22) in a mentally deficient girl (Q66972948)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

title

Tandem duplication (5q13 to 22) in a mentally deficient girl (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

https://api.crossref.org/works/10.1007/BF00271576

1 September 2019

Tandem duplication (5q13→22) in a mentally deficient girl (English)

1 reference

17 June 2023

main subject

human chromosomes 4-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A511177

8 July 2022

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A511177

8 July 2022

1 reference

https://api.crossref.org/works/10.1007/BF00271576

17 June 2023

author name string

E. Kessel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A511177

8 July 2022

R. A. Pfeiffer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A511177

8 July 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=511177

8 July 2022

publication date

1 November 1979

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

page(s)

217-220

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:511177%20AND%20SRC:MED&resulttype=core&format=json

Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations

1 September 2019

cites work

1 reference

12 December 2020

Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+

1 reference

12 December 2020

Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man

1 reference

12 December 2020

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'

1 reference

12 December 2020

Familial translocation, t(2;5) (p23; g31)

1 reference

12 December 2020

Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter)

1 reference

12 December 2020

Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes

1 reference

12 December 2020

Partial 4q trisomy. Apropos of 3 cases

1 reference

12 December 2020

Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA

1 reference

12 December 2020

Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy)

1 reference

12 December 2020

Direct duplication 2p14?2p23

1 reference

12 December 2020

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

1 reference

12 December 2020

Trisomy 4p. Three new observations (author's transl)

1 reference

12 December 2020