(Q33759379)

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Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Fiorella Gurrieri

object named as

Fiorella Gurrieri

2

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Vincenzo Leuzzi

object named as

Vincenzo Leuzzi

5

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author name string

Marcella Zollino

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Daniela Orteschi

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Giuseppe Marangi

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Giovanni Neri

6

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Europe PubMed Central

PubMed publication ID

29 July 2017

publication date

1 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

239-242

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Role of hPHF1 in H3K27 methylation and Hox gene silencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

The role of neuronal complexes in human X-linked brain diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Differential roles of NR2A- and NR2B-containing NMDA receptors in Ras-ERK signaling and AMPA receptor trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Mowat-Wilson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Comparison of germline mosaics of genes in the Polycomb group of Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025798

21 June 2018

Dendritic Spine "Dysgenesis" and Mental Retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.172

21 January 2018

Protein CutA undergoes an unusual transfer into the secretory pathway and affects the folding, oligomerization, and secretion of acetylcholinesterase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21119708

12 December 2020

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Identifiers

10.1038/EJHG.2010.172

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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