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Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? [electronic resource] by
- Wooderchak-Donahue, Whitney L
- Akay, Gulsen
- Whitehead, Kevin
- Briggs, Eric
- Stevenson, David A
- O'Fallon, Brendan
- Velinder, Matthew
- Farrell, Andrew
- Shen, Wei
- Bedoukian, Emma
- Skrabann, Cara M
- Antaya, Richard J
- Henderson, Kate
- Pollak, Jeffrey
- Treat, James
- Day, Ronald
- Jacher, Joseph E
- Hannibal, Mark
- Bontempo, Kelly
- Marth, Gabor
- Bayrak-Toydemir, Pinar
- McDonald, Jamie
Producer: 20200204
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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318.
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319.
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Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site. [electronic resource] by
- Plumitallo, Sara
- Ruiz-Llorente, Lidia
- Langa, Carmen
- Morini, Jacopo
- Babini, Gabriele
- Cappelletti, Donata
- Scelsi, Laura
- Greco, Alessandra
- Danesino, Cesare
- Bernabeu, Carmelo
- Olivieri, Carla
Producer: 20180209
In:
Gene vol. 647
Availability: No items available.
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320.
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