(Q34615060)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977181%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

review article

1 reference

title

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases (English)

1 reference

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10 December 2019

3

1 reference

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10 December 2019

author name string

David Minn

1

1 reference

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10 December 2019

Dominique Christmann

2

1 reference

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10 December 2019

Yves Alembik

4

1 reference

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10 December 2019

Mylène Eliot

5

1 reference

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10 December 2019

Geneviève Mack

6

1 reference

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10 December 2019

Michel Fischbach

7

1 reference

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10 December 2019

Jacques Flament

8

1 reference

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10 December 2019

Francis Veillon

9

1 reference

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10 December 2019

Hélène Dollfus

10

1 reference

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10 December 2019

publication date

1 May 2002

1 reference

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American Journal of Medical Genetics Part A

10 December 2019

published in

1 reference

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10 December 2019

volume

109

1 reference

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10 December 2019

issue

3

1 reference

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10 December 2019

page(s)

211-217

1 reference

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The Schinzel-Giedion syndrome

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Cortical visual impairment in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Schinzel-Giedion syndrome and congenital megacalyces.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Three new cases of the Schinzel-Giedion syndrome and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Neurosonography and pathology in the Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

The Schinzel-Giedion syndrome. A case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Schinzel-Giedion syndrome: evidence for a neurodegenerative process

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

CHARGE syndrome: report of 47 cases and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Auditory and temporal bone abnormalities in CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Schinzel-Giedion syndrome: report of two sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Congenital hereditary autosomal recessive alacrima

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Familial megacalyces with autosomal recessive inheritance. Report of 3 affected siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Sacral tumors in Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Hereditary congenital alacrima

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10348

21 January 2018

Identifiers

DOI

10.1002/AJMG.10348

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11977181%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference