(Q27324674)

Claudia B Catarino

2

0 references

Krishna Chinthapalli

Krishna Chinthapalli

3

0 references

Nicholas Lench

Nicholas Lench

11

0 references

John S. Duncan

John S Duncan

13

0 references

Lisa Clayton

4

Lisa M S Clayton

0 references

author name string

Dalia Kasperavičiūtė

1

0 references

Maria Thom

5

0 references

Lillian Martinian

6

0 references

Hannah Cohen

7

0 references

Shazia Adalat

8

0 references

Detlef Bockenhauer

9

0 references

Martin Koltzenburg

12

0 references

Peter Hammond

14

0 references

Raoul C M Hennekam

15

0 references

John M Land

16

0 references

Sanjay M Sisodiya

Creative Commons Attribution 4.0 International

17

0 references

language of work or name

English

0 references

publication date

2011

0 references

published in

PLOS One

0 references

volume

6

0 references

issue

8

0 references

page(s)

e23182

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copyright license

start time

17 August 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation

21 March 2017

1 reference

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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

21 March 2017

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 March 2017

1 reference

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LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, control Purkinje cell differentiation in the developing cerebellum

21 March 2017

1 reference

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Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

21 March 2017

1 reference

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

28 September 2017

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Phenotypic variability and genetic susceptibility to genomic disorders

28 September 2017

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

28 September 2017

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Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

28 September 2017

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Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies.

28 September 2017

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

28 September 2017

1 reference

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

28 September 2017

1 reference

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

28 September 2017

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Role of the PROS1 gene in thrombosis: lessons and controversies

28 September 2017

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Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?

28 September 2017

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Temporal lobe sclerosis associated with hippocampal sclerosis in temporal lobe epilepsy: neuropathological features

28 September 2017

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

28 September 2017

1 reference

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Transcriptional control of axonal guidance and sorting in dorsal interneurons by the Lim-HD proteins Lhx9 and Lhx1.

28 September 2017

1 reference

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Neurological comorbidity and epilepsy: implications for treatment

28 September 2017

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

28 September 2017

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

28 September 2017

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28 September 2017

Human CoQ10 deficiencies

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Treating obstructive sleep apnea in adults with epilepsy: a randomized pilot trial

28 September 2017

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Epilepsy: being ill in more ways than one.

28 September 2017

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Facilitating quality improvement in physician management of comorbid chronic disease in an urban minority practice.

28 September 2017

1 reference

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Lost in transition: challenges in the expanding field of adult genetics

28 September 2017

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Acetyl-coenzyme A carboxylases: versatile targets for drug discovery

28 September 2017

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LIM-homeodomain genes in mammalian development and human disease.

28 September 2017

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28 September 2017

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The epidemiology of the comorbidity of epilepsy in the general population

28 September 2017

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Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

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Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

21 January 2018

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Differential expression of LIM-homeodomain factors in Cajal-Retzius cells of primates, rodents, and birds.

21 January 2018

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Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

21 January 2018

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Identification of Adipocyte Genes Regulated by Caloric Intake

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21858020

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges in the clinical application of whole-genome sequencing

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21858020

inferred from PubMed ID database lookup

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Migraine, epilepsy, and psychiatric comorbidity: partners in crime

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21858020