Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (Q35079988)

6 August 2017

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

1 reference

6 August 2017

47

1 reference

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13 June 2020

William B. Dobyns

51

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13 June 2020

1

Alain Verloes

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13 June 2020

Nataliya Di Donato

2

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13 June 2020

Débora R Bertola

9

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Didier Lacombe

22

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Daniela Melis

25

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13 June 2020

Vincent Procaccio

35

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Séverine Drunat

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13 June 2020

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Han Brunner

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Malgorzata J. M. Nowaczyk

13 June 2020

30

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Malgorzata J M Nowaczyk

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13 June 2020

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Judith Allanson

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13 June 2020

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Julien Masliah-Planchon

3

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Marjolijn Jongmans

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Omar A Abdul-Raman

5

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13 June 2020

Beate Albrecht

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13 June 2020

Nicolas Chassaing

10

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13 June 2020

Albert David

11

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13 June 2020

Koen Devriendt

12

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13 June 2020

Pirayeh Eftekhari

13

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Valérie Drouin-Garraud

14

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13 June 2020

Francesca Faravelli

15

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13 June 2020

Laurence Faivre

16

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13 June 2020

Fabienne Giuliano

17

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13 June 2020

Leina Guion Almeida

18

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13 June 2020

Jorge Juncos

19

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13 June 2020

Marlies Kempers

20

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13 June 2020

Hatice Koçak Eker

21

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Angela Lin

23

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13 June 2020

Grazia Mancini

24

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Charles Marques Lourenço

26

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Victoria Mok Siu

27

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Gilles Morin

28

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Marjan Nezarati

29

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Jeanette C Ramer

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Massimiliano Rossi

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Yves Sznajer

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Ludivine Templin

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50

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Daniela T Pilz

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Alexander Hoischen

48

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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

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13 June 2020

volume

23

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13 June 2020

page(s)

292-301

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13 June 2020

issue

3

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

13 June 2020

exact match

0 references

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

8 July 2018

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8 July 2018

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27 September 2018

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27 September 2018

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27 September 2018

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

27 September 2018

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Cerebro-oculo-facial-lymphatic syndrome.

27 September 2018

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

27 September 2018

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Cerebro-fronto-facial syndrome: three types?

27 September 2018

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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

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

27 September 2018

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

27 September 2018

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12 December 2020

Teebi hypertelorism syndrome: additional cases

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12 December 2020

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Cell biology. Actin discrimination

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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