(Q35079988)

6 August 2017

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (English)

1 reference

6 August 2017

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

William B. Dobyns

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1

Alain Verloes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nataliya Di Donato

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Débora R Bertola

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Didier Lacombe

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Daniela Melis

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Vincent Procaccio

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

49

Séverine Drunat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

8

Han Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

Malgorzata J. M. Nowaczyk

13 June 2020

30

object named as

Malgorzata J M Nowaczyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

7

Judith Allanson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Julien Masliah-Planchon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marjolijn Jongmans

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Omar A Abdul-Raman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Beate Albrecht

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nicolas Chassaing

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Albert David

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Koen Devriendt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Pirayeh Eftekhari

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Valérie Drouin-Garraud

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Francesca Faravelli

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Laurence Faivre

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Fabienne Giuliano

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Leina Guion Almeida

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Jorge Juncos

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marlies Kempers

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Hatice Koçak Eker

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Angela Lin

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Grazia Mancini

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Charles Marques Lourenço

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Victoria Mok Siu

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Gilles Morin

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marjan Nezarati

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Jeanette C Ramer

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sara Osimani

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nicole Philip

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mary Ella Pierpont

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Zeichi-Seide Roseli

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Massimiliano Rossi

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Cristina Rusu

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Yves Sznajer

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ludivine Templin

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Vera Uliana

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mirjam Klaus

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Bregje Van Bon

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Conny Van Ravenswaaij

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Bruce Wainer

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Andrew E Fry

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Jean-Baptiste Rivière

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Daniela T Pilz

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Alexander Hoischen

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

1 reference

23 July 2014

1 reference

European Journal of Human Genetics

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

292-301

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.95

13 June 2020

exact match

0 references

cites work

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

8 July 2018

1 reference

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Transcriptional regulation and nuclear reprogramming: roles of nuclear actin and actin-binding proteins

8 July 2018

1 reference

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8 July 2018

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Case report: Noonan-like multiple central giant cell granuloma syndrome.

8 July 2018

1 reference

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

β-Actin specifically controls cell growth, migration, and the G-actin pool

8 July 2018

1 reference

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Actin: from structural plasticity to functional diversity.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Visualizing a role for the actin cytoskeleton in the regulation of B-cell activation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoforms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Actin, a central player in cell shape and movement

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

8 July 2018

1 reference

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Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction

8 July 2018

1 reference

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Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models

8 July 2018

1 reference

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Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues

8 July 2018

1 reference

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Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy

8 July 2018

1 reference

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Arginylation of beta-actin regulates actin cytoskeleton and cell motility

8 July 2018

1 reference

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A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

8 July 2018

1 reference

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The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly

8 July 2018

1 reference

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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Functional specificity of actin isoforms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Beta and gamma actin mRNAs are differentially located within myoblasts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Acrocallosal syndrome: report of a Brazilian girl

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Inactivating mutations in SWI/SNF chromatin remodeling genes in human cancer.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Cerebro-oculo-facial-lymphatic syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Cerebro-fronto-facial syndrome: three types?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Sorting of beta-actin mRNA and protein to neurites and growth cones in culture.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326722

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype

27 September 2018

1 reference

12 December 2020

Teebi hypertelorism syndrome: additional cases

1 reference

12 December 2020

A Family With Blepharo-Naso-Facial Malformations

1 reference

12 December 2020

Eye Findings in the Blepharo-Naso-Facial Malformation Syndrome

1 reference

12 December 2020

Cell biology. Actin discrimination

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

1045529313

0 references

Fatcat ID

release_3lfzoko6wfd4lcypoxb223txnm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3lfzoko6wfd4lcypoxb223txnm

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25052316%20AND%20SRC:MED&resulttype=core&format=json