(Q73893349)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375913%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? (English)

1 reference

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7 November 2019

1 reference

M Di Rocco

1

1 reference

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7 November 2019

P Picco

2

1 reference

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7 November 2019

A Arslanian

3

1 reference

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7 November 2019

G Restagno

4

1 reference

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7 November 2019

F Perfumo

5

1 reference

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7 November 2019

A Buoncompagni

6

1 reference

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7 November 2019

M Gattorno

7

1 reference

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7 November 2019

C Borrone

8

1 reference

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7 November 2019

publication date

1 November 1997

1 reference

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American Journal of Medical Genetics Part A

7 November 2019

published in

1 reference

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7 November 2019

volume

73

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7 November 2019

issue

1

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7 November 2019

page(s)

1-4

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Peripheral dysostosis associated with juvenile nephronophthisis

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C1%3A%3AAID-AJMG1%3E3.0.CO%3B2-Y

A new syndrome with ocular, skeletal and renal involvement

21 January 2018

1 reference

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Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders

21 January 2018

1 reference

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Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C1%3A%3AAID-AJMG1%3E3.0.CO%3B2-Y

Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C1%3A%3AAID-AJMG1%3E3.0.CO%3B2-Y

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

21 January 2018

1 reference

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Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies

21 January 2018

1 reference

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Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C1%3A%3AAID-AJMG1%3E3.0.CO%3B2-Y

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C1%3A%3AAID-AJMG1%3E3.0.CO%3B2-Y

10.1002/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375913%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference