(Q56232649)

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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

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scholarly article

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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum (English)

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whole genome sequencing

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based on heuristic

inferred from title

Tawfeg Ben-Omran

6

object named as

Tawfeg Ben-Omran

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author name string

Mahmoud F Elsaid

1

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Hussein Kamel

2

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Nader Chalhoub

3

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Nahla Abdel Aziz

4

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Khalid Ibrahim

5

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Binu George

7

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Eman Al-Dous

8

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Yasmin Mohamoud

9

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Joel A Malek

10

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M Elizabeth Ross

11

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Alice Abdel Aleem

12

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language of work or name

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publication date

June 2014

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American Journal of Medical Genetics

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164A

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6

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1614-7

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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Recognizable phenotypes associated with intracranial calcification

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Dynamics and functions of tight junctions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36485

21 January 2018

Identifiers

10.1002/AJMG.A.36485

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