Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report (Q27311640)

26 June 2017

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Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report (English)

1 reference

26 June 2017

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12

Fowzan S Alkuraya

1 reference

26 June 2017

11

Ranad Shaheen

1 reference

26 June 2017

Mohammed Zain Seidahmed

1

1 reference

26 June 2017

Mustafa A Salih

2

1 reference

26 June 2017

Omer B Abdulbasit

3

1 reference

26 June 2017

Abdulmohsen Samadi

4

1 reference

26 June 2017

Khalid Al Hussien

5

1 reference

26 June 2017

Abeer M Miqdad

6

1 reference

26 June 2017

Maha S Biary

7

1 reference

26 June 2017

Anas M Alazami

8

1 reference

26 June 2017

Ibrahim A Alorainy

9

1 reference

26 June 2017

Mohammad M Kabiraj

10

1 reference

26 June 2017

language of work or name

English

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publication date

15 July 2016

1 reference

26 June 2017

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26 June 2017

16

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26 June 2017

105

1 reference

https://scigraph.springernature.com/pub.10.1186/s12883-016-0633-0

26 June 2017

1

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exact match

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cites work

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Cathepsin D deficiency is associated with a human neurodegenerative disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Molecular structure of the human asparagine synthetase gene.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947274

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

31 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12883-016-0633-0

10.1186/S12883-016-0633-0

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

26 June 2017

1005806495

0 references

Fatcat ID

release_w5gxuzlg5zb7hel3n7nj4k5bxq

0 references

OpenCitations bibliographic resource ID

77799

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference