(Q44508587)

3 December 2017

title

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan (English)

1 reference

7 March 2023

author name string

J. Spranger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

B. Grimm

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

M. Weller

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

G. Weissenbacher

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

J. Herrmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

E. Gilbert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

R. Krepler

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4816160

7 March 2023

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=4816160

7 March 2023

publication date

1 January 1974

1 reference

3 December 2017

17 January 1974

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=4816160

full work available at URL

7 March 2023

http://link.springer.com/content/pdf/10.1007/BF00491508.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00491508/fulltext.html

7 March 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00491508

7 March 2023

1 reference

Zeitschrift fur Kinderheilkunde

7 March 2023

published in

1 reference

3 December 2017

volume

116

1 reference

3 December 2017

issue

2

1 reference

3 December 2017

page(s)

73-94

1 reference

Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression

3 December 2017

cites work

1 reference

12 December 2020

Genetics of the Meckel syndrome (dysencephalia splanchnocystica)

1 reference

12 December 2020

Fatal neonatal dwarfism

1 reference

12 December 2020

Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases

1 reference

12 December 2020

The Meckel syndrome with limited expression in relatives

1 reference

12 December 2020

Polysyndactyly, short limbs, and genital malformations--a new syndrome?

1 reference

12 December 2020

Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome

1 reference

12 December 2020

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism

1 reference

12 December 2020

[Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion]

1 reference

12 December 2020

[Diagnosis of chondrodystrophic dwarfism in the newborn]

1 reference

12 December 2020

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies

1 reference

12 December 2020

Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases

1 reference

12 December 2020

[The campomelic syndrome]

1 reference

12 December 2020

[Pathological anatomy of chondro-ectodermal dysplasia of Ellis van Creveld]

1 reference

12 December 2020

[Knowledge of chondroectodermal dysplasia (Ellis-van Creveld); 2 case reports]

1 reference

12 December 2020

[A case of Ellis-van Creveld's chrondro ectodermal dysplasia]

1 reference

12 December 2020

Radiography of stillborn infants

1 reference

12 December 2020

Chromosomal sex determination in a male internal pseudohermaphrodite

1 reference

12 December 2020

[Thanatophoric dwarfism]

1 reference

12 December 2020

Chondroectodermal dysplasia (Ellis-van Creveld disease); a case report

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00491508

0 references

1 reference