22q11.2 duplication plus: exome sequencing reveals dual diagnoses in patients with 22q11.2 duplication and unexplained phenotypic features

2021 ◽  
Vol 132 ◽  
pp. S130
Author(s):  
Zaimary Meneses ◽  
Jenna Durant ◽  
Francis Jeshira Reynoso Santos
Keyword(s):  
Exome Sequencing ◽  
Dual Diagnoses ◽  
Phenotypic Features

Ten Things We Can Do to Meet the Diverse Needs of Children with Dual Diagnoses

2005 ◽  
Author(s):  
Bernie Fabry ◽  
John J. McGonigle ◽  
Jeanine Rasky ◽  
Martin Lubetsky
Keyword(s):  
Dual Diagnoses

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

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 ◽  
Whole Exome

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

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

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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