(Q28294607)

2

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Yonatan Perez

3

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Daniella Landau

4

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Khalil Elbedour

5

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Yshaia Langer

6

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Rotem Kadir

7

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Michael Volodarsky

8

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Sara Sivan

9

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Ginat Narkis

10

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Ohad S Birk

European Journal of Human Genetics

11

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language of work or name

English

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publication date

March 2014

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published in

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volume

22

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issue

3

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page(s)

374-8

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cites work

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925282

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

20 March 2017

1 reference

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Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925282

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925282

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

20 March 2017

1 reference

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O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1

20 March 2017

1 reference

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The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with notch signaling and pyrimidine metabolism pathways in Drosophila

20 March 2017

1 reference

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ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes

29 September 2017

1 reference

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Tandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925282

O-linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell-matrix interactions.

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.159

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925282