Publications:

Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.

Journal Of The American Heart Association

Kasak, Laura L; Rull, Kristiina K; Yang, Tao T; Roden, Dan M DM; Laan, Maris M

Publication Date: 2021-09-07

Variant appearance in text: rs148619685

PubMed Link: 34398675

Variant Present in the following documents:

• JAH3-10-e021236-s001.pdf
• JAH3-10-e021236.pdf

View BVdb publication page

Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.

Journal Of The American Heart Association

Kasak, Laura L; Rull, Kristiina K; Yang, Tao T; Roden, Dan M DM; Laan, Maris M

Publication Date: 2021-09-07

Variant appearance in text: rs148619685

PubMed Link: 34398675

Variant Present in the following documents:

• JAH3-10-e021236-s001.pdf
• JAH3-10-e021236.pdf

View BVdb publication page

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: TDGF1: 325G>C; Asp109His

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: TDGF1: D109H; rs148619685

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page