Ghent University Academic Bibliography

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- Conference Paper
- C3
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore Pottie (UGent) , Christin S. Adamo, Aude Beyens (UGent) , Steffen Luetke, Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Phil Salmon, Riet De Rycke (UGent) , Alper Gezdirici, Elif Yilmaz Gulec, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens (UGent) , Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(12). p.2230-2252
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- Miscellaneous
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Lore Pottie (UGent) , Christin S. Adamo, Aude Beyens (UGent) , Steffen Lutke, Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq, Phil L. Salmon, Riet De Rycke (UGent) , Alper Gezdirici, Elif Yilmaz Gulec, et al.

(2021) AMERICAN JOURNAL OF HUMAN GENETICS. 108(12). p.2386-2388
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie (UGent) , Christin S. Adamo, Aude Beyens (UGent) , Steffen Lütke, Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Phil L. Salmon, Riet De Rycke (UGent) , Alper Gezdirici, Elif Yilmaz Gulec, et al.

(2021) AMERICAN JOURNAL OF HUMAN GENETICS. 108(6). p.1095-1114

Academic Bibliography

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

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