E-LIB Suche - Ergebnisse für: Boyadjiev Boyd, Simeon A.

1

Umbilical cord blood transplantation in Hurler syndrome usi..:

Boyadjiev Boyd, Simeon A. ; Dvorak, Christopher C. ; Bivina, Liga...
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S27 , 2014

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

2

Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis:..:

Barba, Marta ; Di Pietro, Lorena ; Massimi, Luca...
Bone. 121 (2019) - p. 293 , 2019

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

3

Rare exonic CELSR3 variants identified in Bladder Exstrophy..:

Jelin, Angie C. ; Sopko, Nikolai ; Sobreira, Nara...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

Whole genome sequencing identifies associations for nonsynd..:

Musolf, Anthony M. ; Justice, Cristina M. ; Erdogan-Yildirim, Zeynep...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

5

Joint multi-ancestry and admixed GWAS reveals the complex g..:

Goovaerts, Seppe ; Hoskens, Hanne ; Eller, Ryan J....
Nature Communications. 14 (2023) 1 - p. , 2023

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

6

The genetic overlap between osteoporosis and craniosynostos..:

Kague, Erika ; Medina-Gomez, Carolina ; Boyadjiev, Simeon A..
Frontiers in Endocrinology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Targeted Sequencing of Candidate Regions Associated with Sa..:

Justice, Cristina M. ; Musolf, Anthony M. ; Cuellar, Araceli...
Genes. 13 (2022) 5 - p. 816 , 2022

Link: https://doi.org/10.3390/..

8

Identification of differentially expressed proteins between..:

Bala, Krithi ; Cuellar, Araceli ; Herren, Anthony W..
PROTEOMICS – Clinical Applications. 15 (2021) 2-3 - p. , 2021

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

9

Collagen has a unique SEC24 preference for efficient export..:

Lu, Chung‐Ling ; Ortmeier, Steven ; Brudvig, Jon...
Traffic. 23 (2021) 1 - p. 81-93 , 2021

Link: https://doi.org/10.1111/..

10

Gain-of-function variants and overexpression of RUNX2 in pa..:

Cuellar, Araceli ; Bala, Krithi ; Di Pietro, Lorena...
Bone. 137 (2020) - p. 115395 , 2020

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

11

Correction: SMAD6 variants in craniosynostosis: genotype an..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1567 , 2020

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

12

SMAD6 variants in craniosynostosis: genotype and phenotype ..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1498-1506 , 2020

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

13

Pegunigalsidase alfa, a novel PEGylated enzyme replacement ..:

Schiffmann, Raphael ; Goker‐Alpan, Ozlem ; Holida, Myrl...
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 534-544 , 2019

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

14

BBS9 gene in nonsyndromic craniosynostosis: Role of the pri..:

Barba, Marta ; Di Pietro, Lorena ; Massimi, Luca...
Bone. 112 (2018) - p. 58-70 , 2018

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

15

Genetic advances in craniosynostosis:

Lattanzi, Wanda ; Barba, Marta ; Di Pietro, Lorena.
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1406-1429 , 2017

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