(Q40946787)

English

What's in a face?

scientific article published on February 1996

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scholarly article

1 reference

Europe PubMed Central

25 September 2017

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Europe PubMed Central

What's in a face? (English)

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Europe PubMed Central

25 September 2017

author name string

Winter RM

1

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Europe PubMed Central

25 September 2017

language of work or name

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publication date

1 February 1996

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Europe PubMed Central

25 September 2017

Nature Genetics

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Europe PubMed Central

25 September 2017

12

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Europe PubMed Central

25 September 2017

124-129

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Europe PubMed Central

25 September 2017

2

1 reference

Europe PubMed Central

25 September 2017

https://scigraph.springernature.com/pub.10.1038/ng0296-124

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Cellular distribution of lesions in Batten disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

It was a very good year for DNA repair

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Genetic linkage of Werner's syndrome to five markers on chromosome 8

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

The Bloom's syndrome gene product is homologous to RecQ helicases

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

21 January 2018

Toward a molecular understanding of skeletal development

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Craniofacial syndromes: no such thing as a single gene disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

The facio-audio-symphalangism syndrome: report of a case and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

The acrocallosal syndrome and Greig syndrome are not allelic disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Hydrolethalus syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome: the changing phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic basis of DiGeorge and velocardiofacial syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Smart transcription factors

1 reference

https://api.crossref.org/works/10.1038%2FNG0296-124

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0296-124

1 reference

Europe PubMed Central

25 September 2017

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1 reference

Europe PubMed Central

25 September 2017

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