(Q41929246)

14 October 2017

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly (English)

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14 October 2017

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4

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14 October 2017

Hirotomo Saitsu

1

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author name string

Sumimasa Yamashita

2

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14 October 2017

Yukichi Tanaka

3

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14 October 2017

Mitsuko Nakashima

5

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14 October 2017

Noriko Miyake

6

1 reference

14 October 2017

Naomichi Matsumoto

7

1 reference

14 October 2017

16 October 2014

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Journal of Human Genetics

14 October 2017

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14 October 2017

59

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14 October 2017

12

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14 October 2017

687-690

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https://scigraph.springernature.com/pub.10.1038/jhg.2014.91

14 October 2017

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cites work

ATM activation by ionizing radiation requires BRCA1-associated BAAT1

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

Genetic mapping and exome sequencing identify variants associated with five novel diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

Solution structure of the CIDE-N domain of CIDE-B and a model for CIDE-N/CIDE-N interactions in the DNA fragmentation pathway of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.91

21 January 2018

Identifiers

DOI

10.1038/JHG.2014.91

1 reference

14 October 2017

1 reference