Publications:

A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel, Switzerland)

Thajer, Alexandra A; Baumgartner, Margot M; Jorda, Anselm A; Hallwirth, Ulrike U; Lischka, Julia J; Greber-Platzer, Susanne S

Publication Date: 2022-04-21

Variant appearance in text: LDLR: 993C>T

PubMed Link: 35626767

Variant Present in the following documents:

• children-09-00590.pdf

View BVdb publication page

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 993C>T; Asp331=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page