E-LIB Suche - Ergebnisse für: Byers, Peter H

1

Endovascular repair of a common iliac artery aneurysm with ..:

Shalhub, Sherene ; Byers, Peter H.
Journal of Vascular Surgery Cases, Innovations and Techniques. 9 (2023) 2 - p. 101192 , 2023

Link: https://doi.org/10.1016/..

2

Dominant‐negative variant in SLC1A4 causes an autosomal dom..:

Pujol‐Giménez, Jonai ; Mirzaa, Ghayda ; Blue, Elizabeth E....
Annals of Clinical and Translational Neurology. 10 (2023) 6 - p. 1046-1053 , 2023

Link: https://doi.org/10.1002/..

3

Open repair of abdominal aortic aneurysms in patients with ..:

Dittman, James M. ; Saldana-Ruiz, Nallely ; Newhall, Karina...
Journal of Vascular Surgery Cases, Innovations and Techniques. 9 (2023) 2 - p. 101194 , 2023

Link: https://doi.org/10.1016/..

4

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Role..:

Guillemyn, Brecht ; De Saffel, Hanna ; Bek, Jan Willem...
Journal of Bone and Mineral Research. 38 (2023) 11 - p. 1718-1730 , 2023

Link: https://doi.org/10.1002/..

5

Operative repair of right intrathoracic subclavian artery a..:

French, Bryce L. ; Menghini, Anthony M. ; Burke, Christopher R...
Journal of Vascular Surgery Cases, Innovations and Techniques. 9 (2023) 3 - p. 101081 , 2023

Link: https://doi.org/10.1016/..

6

Mendelian inheritance revisited: dominance and recessivenes..:

Zschocke, Johannes ; Byers, Peter H. ; Wilkie, Andrew O. M.
Nature Reviews Genetics. 24 (2023) 7 - p. 442-463 , 2023

Link: https://doi.org/10.1038/..

7

A Targeted Liquid Chromatography–Tandem Mass Spectrometry M..:

Huynh, Huu Hien ; Forrest, Katrina ; Becker, Jessica O...
Clinical Chemistry. 68 (2022) 10 - p. 1281-1291 , 2022

Link: https://doi.org/10.1093/..

8

Gregor Mendel and the concepts of dominance and recessivene..:

Zschocke, Johannes ; Byers, Peter H. ; Wilkie, Andrew O. M.
Nature Reviews Genetics. 23 (2022) 7 - p. 387-388 , 2022

Link: https://doi.org/10.1038/..

9

The Aortic Dissection Collaborative: Methods for building c..:

Lee, Jenney R. ; Lawrence, Sarah O. ; Soto, Michael...
Seminars in Vascular Surgery. 35 (2022) 1 - p. 9-15 , 2022

Link: https://doi.org/10.1053/..

10

Genetic counseling and screening of consanguineous couples ..:

Bennett, Robin L. ; Malleda, Neeraja R. ; Byers, Peter H...
Journal of Genetic Counseling. 30 (2021) 5 - p. 1354-1357 , 2021

Link: https://doi.org/10.1002/..

11

Caffey disease is associated with distinct arginine to cyst..:

Dhooge, Tibbe ; Syx, Delfien ; Hermanns-Lê, Trinh...
Genetics in Medicine. 23 (2021) 12 - p. 2378-2385 , 2021

Link: https://doi.org/10.1038/..

12

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperf..:

Gistelinck, Charlotte ; Weis, MaryAnn ; Rai, Jyoti...
JBMR Plus. 5 (2021) 3 - p. , 2021

Link: https://doi.org/10.1002/..

13

Extrathoracic subclavian artery aneurysm in a patient with ..:

Banning, Stephanie K. ; Ur, Rebecca ; Malleis, James...
Journal of Vascular Surgery Cases, Innovations and Techniques. 7 (2021) 1 - p. 46-50 , 2021

Link: https://doi.org/10.1016/..

14

Biallelic variants in MESD, which encodes a WNT-signaling-r..:

Tran, Thao T. ; Keller, Rachel B. ; Guillemyn, Brecht...
Human Genetics and Genomics Advances. 2 (2021) 4 - p. 100051 , 2021

Link: https://doi.org/10.1016/..

15

Marfan syndrome resulting from a rare pathogenic FBN1 varia..:

Haan, Eric A. ; Chamalaun, Francois H. ; Chamuleau, Steven A. J....
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2180-2189 , 2021

Link: https://doi.org/10.1002/..