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3 research outputs found
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family
Author
Caitlin B. Mauer
Haley Streff
+7 more
Hope Northrup
Jennifer E. Posey
Kate Krempely
Krueger
Lorraine Potocki
Northrup
Richards
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Author
Anderson Michael J.
Carneiro Fatima
+7 more
Chao Elizabeth
Karam Rachid
Krempely Kate
Lee Kristy
Mensenkamp A.R.
Roberts Maegan E.
Schrader Kasmintan A.
Publication venue
'Wiley'
Publication date
01/01/2018
Field of study
No full text
Item does not contain fulltex
Radboud Repository
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
Author
A Auton
ACMG Board Of Directors
+24 more
Brigette Tippin Davis
ED Smith
F Sanger
Holly LaDuca
J Shendure
J Wynn
Jenna Guiltinan
JG Hamilton
JS Roberts
Kate Krempely
L Badalato
L Mamanova
LM Smith
MJ Landrum
MO Dorschner
Patrick Reineke
Phillip Gray
S Mullin
SM Harrison
SS Kalia
ST Sherry
Stephanie Gutierrez
Stephany Tandy-Connor
W Mu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref