Two cases of variant late infantile ceroid lipofuscinosis in Jordan (Q61443537)

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English	Two cases of variant late infantile ceroid lipofuscinosis in Jordan	No description defined

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scholarly article

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Two cases of variant late infantile ceroid lipofuscinosis in Jordan (English)

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3

object named as

Olaf Riess

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author name string

Omar Nafi

1

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Bashar Ramadan

2

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Rebecca Buchert

4

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Tawfiq Froukh

5

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language of work or name

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publication date

26 January 2019

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World journal of clinical cases

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7

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2

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203-208

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Progressive disintegrative psychosis of childhood

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https://pubmed.ncbi.nlm.nih.gov/30705896

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based on heuristic

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Batten disease: past, present, and future.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Childhood disintegrative disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal ceroid lipofuscinoses: detection of atypical forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

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based on heuristic

inferred from PubMed ID database lookup

Heller's disease and childhood schizophrenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

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based on heuristic

inferred from PubMed ID database lookup

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

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based on heuristic

inferred from PubMed ID database lookup

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SAMBLASTER: fast duplicate marking and structural variant read extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Magnetic resonance spectroscopy of the frontal region in patients with metabolic syndrome: correlation with anthropometric measurement

1 reference

https://pubmed.ncbi.nlm.nih.gov/30705896

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.12998/WJCC.V7.I2.203

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PMC publication ID

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PubMed publication ID

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