Whole exome sequencing in patients with inherited white matter disorders

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2017.04.927 ◽

2017 ◽

Vol 21 ◽

pp. e62

Author(s):

I. Dorboz ◽

F. Renaldo ◽

K. Boussaid ◽

S. Samaan ◽

D. Tonduti ◽

...

Keyword(s):

White Matter ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

White Matter Disorders ◽

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Whole exome sequencing in patients with white matter abnormalities

Annals of Neurology ◽

10.1002/ana.24650 ◽

2016 ◽

Vol 79 (6) ◽

pp. 1031-1037 ◽

Author(s):

Adeline Vanderver ◽

Cas Simons ◽

Guy Helman ◽

Joanna Crawford ◽

Nicole I. Wolf ◽

...

Keyword(s):

White Matter ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

White Matter Abnormalities ◽

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Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation

Gene ◽

10.1016/j.gene.2015.04.075 ◽

2015 ◽

Vol 569 (2) ◽

pp. 318-322 ◽

Author(s):

Jin Sook Lee ◽

Sangmoon Lee ◽

Byung Chan Lim ◽

Ki Joong Kim ◽

Yong Seung Hwang ◽

...

Keyword(s):

Intellectual Disability ◽

White Matter ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

White Matter Changes ◽

Developmental Retardation ◽

Alpha Thalassemia ◽

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Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

The Thoracic and Cardiovascular Surgeon ◽

10.1055/s-0034-1393993 ◽

2014 ◽

Vol 62 (S 02) ◽

Author(s):

M. Hitz ◽

S. Al-Turki ◽

A. Schalinski ◽

U. Bauer ◽

T. Pickardt ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

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FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

10.1055/s-0038-1675915 ◽

2018 ◽

Author(s):

Yasemin Dincer ◽

Michael Zech ◽

Matias Wagner ◽

Nikolai Jung ◽

Volker Mall ◽

...

Keyword(s):

Movement Disorder ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Dyskinetic Movement

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Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

Endocrine Abstracts ◽

10.1530/endoabs.39.oc5.2 ◽

2015 ◽

Author(s):

Lucy Shapiro ◽

Martin Savage ◽

Lou Metherell ◽

Helen Storr

Keyword(s):

Short Stature ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Single Gene ◽

Genetic Characterisation ◽

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Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES)

Case Medical Research ◽

10.31525/ct1-nct04126915 ◽

2019 ◽

Author(s):

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

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Faculty Opinions recommendation of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.5376956.9620054 ◽

2011 ◽

Author(s):

David Glahn

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Brain Malformations

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Faculty Opinions recommendation of Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717956777.793461365 ◽

2012 ◽

Author(s):

Jane Hewitt

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Gene Identification ◽

Congenital Disorders ◽

Type I ◽

Congenital Disorders Of Glycosylation ◽

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Faculty Opinions recommendation of Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718048076.793481338 ◽

2013 ◽

Author(s):

Wim van Hul

Keyword(s):

Bone Density ◽

Trabecular Bone ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Vertebral Compression Fractures ◽

Trabecular Bone Density ◽

Compression Fractures ◽

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Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718131259.793487604 ◽

2013 ◽

Author(s):

Marc S Williams

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Mendelian Disorders ◽

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