E-LIB Suche - Ergebnisse für: Gustafson, Jonas A.

1

3-hour genome sequencing and targeted analysis to rapidly a..:

Zalusky, Miranda P.G. ; Gustafson, Jonas A. ; Bohaczuk, Stephanie C....
Genetics in Medicine Open. 2 (2024) - p. 101833 , 2024

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

2

Damaging variants in FOXI3 cause microtia and craniofacial ..:

Quiat, Daniel ; Timberlake, Andrew T. ; Curran, Justin J....
Genetics in Medicine. 25 (2023) 1 - p. 143-150 , 2023

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

3

Transcriptomic Signatures of Single-Suture Craniosynostosis..:

Lapehn, Samantha ; Gustafson, Jonas A. ; Timms, Andrew E...
International Journal of Molecular Sciences. 24 (2023) 6 - p. 5353 , 2023

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

4

Expansion of the sagittal suture induces proliferation of s..:

Aldawood, Zahra A. ; Mancinelli, Luigi ; Geng, Xuehui...
Proceedings of the National Academy of Sciences. 120 (2023) 16 - p. , 2023

Link: https://doi.org/10.1073/..

5

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Cran..:

Gustafson, Jonas ; Bjork, Maria ; van Ravenswaaij-Arts, Conny M. A...
Case Reports in Genetics. 2022 (2022) - p. 1-8 , 2022

Link: https://doi.org/10.1155/..

6

Haploinsufficiency of SF3B2 causes craniofacial microsomia:

Timberlake, Andrew T. ; Griffin, Casey ; Heike, Carrie L....
Nature Communications. 12 (2021) 1 - p. , 2021

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

7

Unexpected role of SIX1 variants in craniosynostosis: expan..:

Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J...
Journal of Medical Genetics. 59 (2021) 2 - p. 165-169 , 2021

Link: https://doi.org/10.1136/..

8

MYT1 role in the microtia‐craniofacial microsomia spectrum:

Luquetti, Daniela V. ; Heike, Carrie L. ; Zarante, Ignacio...
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020

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

9

Calvarial osteoblast gene expression in patients with crani..:

Gustafson, Jonas A. ; Park, Sarah S. ; Cunningham, Michael L..
PLOS ONE. 14 (2019) 8 - p. e0221402 , 2019

Link: https://doi.org/10.1371/..

10

Expansion of the sagittal suture induces proliferation of s..:

Aldawood, Zahra A ; Mancinelli, Luigi ; Geng, Xuehui...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120053/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Damaging variants in FOXI3 cause microtia and craniofacial ..:

Quiat, Daniel ; Timberlake, Andrew T ; Curran, Justin J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885525/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Transcriptomic Signatures of Single-Suture Craniosynostosis..:

Lapehn, Samantha ; Gustafson, Jonas A ; Timms, Andrew E..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049207/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Mechanism of Disease:Recessive ADAMTSL4 Mutations and Crani..:

Gustafson, Jonas ; Bjork, Maria ; van Ravenswaaij-Arts, Conny M A.
Gustafson , J , Bjork , M , van Ravenswaaij-Arts , C M A & Cunningham , M L 2022 , ' Mechanism of Disease : Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis ' , Case reports in genetics , vol. 2022 , 3239260 . https://doi.org/10.1155/2022/3239260 ; ISSN:2090-6544. , 2022

Link: http://hdl.handle.net/11..

14

Unexpected role of SIX1 variants in craniosynostosis: expan..:

Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273188/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Haploinsufficiency of SF3B2 causes craniofacial microsomia:

Timberlake, Andrew T ; Griffin, Casey ; Heike, Carrie L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333351/. , 2021

Link: http://www.ncbi.nlm.nih...