301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

Journal of Investigative Dermatology ◽

10.1016/j.jid.2020.03.307 ◽

2020 ◽

Vol 140 (7) ◽

pp. S37

Author(s):

S.O. Erjavec ◽

S. Gelfman ◽

A.R. Abdelaziz ◽

E.Y. Lee ◽

L. Petukhova ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Type Ii ◽

Keratin Gene ◽

Hair Keratin ◽

Whole Exome ◽

Hotspot Mutation

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Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

Kidney International Reports ◽

10.1016/j.ekir.2018.07.015 ◽

2018 ◽

Vol 3 (6) ◽

pp. 1454-1463

Author(s):

Reza Maroofian ◽

Isabel Schuele ◽

Maryam Najafi ◽

Zeineb Bakey ◽

Abolfazl Rad ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Exome Sequencing ◽

Missense Mutation ◽

Whole Exome Sequencing ◽

Type Ii ◽

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Whole Exome Sequencing of Multiple Atypical Meningiomas in a Patient without History of Neurofibromatosis Type II: A Case Report

American Journal of Case Reports ◽

10.12659/ajcr.923928 ◽

2020 ◽

Vol 21 ◽

Author(s):

Jian Lyu ◽

Yu Quan ◽

Ju-bo Wang ◽

Shou-ping Gong

Keyword(s):

Case Report ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurofibromatosis Type ◽

Type Ii ◽

Whole Exome ◽

Neurofibromatosis Type Ii ◽

Atypical Meningiomas

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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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