E-LIB Suche - Ergebnisse für: Wambach, Jennifer A

1

Dominant missense variants in SREBF2 are associated with co..:

Moulton, Matthew J. ; Atala, Kristhen ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 9 - p. 101174 , 2024

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

2

Human pluripotent stem cell modeling of alveolar type 2 cel..:

Sun, Yuliang L. ; Hennessey, Erin E. ; Heins, Hillary...
Journal of Clinical Investigation. 134 (2024) 2 - p. , 2024

Link: https://doi.org/10.1172/..

3

Provision and availability of genomic medicine services in ..:

Wojcik, Monica H. ; Callahan, Katharine P. ; Antoniou, Austin...
Genetics in Medicine. 25 (2023) 10 - p. 100926 , 2023

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

4

Towards personalized therapies for genetic disorders of sur..:

Peers de Nieuwburgh, Maureen ; Wambach, Jennifer A. ; Griese, Matthias.
Seminars in Fetal and Neonatal Medicine. 28 (2023) 6 - p. 101500 , 2023

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

5

Noninvasive management of infants with SFTPC pathogenic var..:

Liptzin, Deborah R. ; McGraw, Matthew D. ; Stidham, Timothy..
Pediatric Pulmonology. 59 (2023) 2 - p. 488-491 , 2023

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

6

The US national registry for childhood interstitial and dif..:

Nevel, Rebekah J. ; Deutsch, Gail H. ; Craven, Daniel...
Pediatric Pulmonology. , 2023

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

7

P378: Inter-center variation in the availability and provis..:

Chaudhari, Bimal ; Brunelli, Luca ; Callahan, Katharine...
Genetics in Medicine Open. 1 (2023) 1 - p. 100414 , 2023

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

8

Biologic characterization of ABCA3 variants in lung tissue ..:

Xu, Kathryn K. ; Wegner, Daniel J. ; Geurts, Lucille C....
Pediatric Pulmonology. 57 (2022) 5 - p. 1325-1330 , 2022

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

9

Gene Therapy Potential for Genetic Disorders of Surfactant ..:

Cooney, Ashley L. ; Wambach, Jennifer A. ; Sinn, Patrick L..
Frontiers in Genome Editing. 3 (2022) - p. , 2022

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

10

Lethal neonatal respiratory failure due to biallelic varian..:

Viehl, Luke ; Wegner, Daniel J. ; Hmiel, Stanley P....
Pediatric Nephrology. , 2022

Link: https://doi.org/10.1007/..

11

A dominant negative variant ofRAB5Bdisrupts maturation of s..:

Huang, Huiyan ; Pan, Jiehong ; Spielberg, David R....
Proceedings of the National Academy of Sciences. 119 (2022) 6 - p. , 2022

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

12

Correction: Essentials of Neonatal-Perinatal Medicine fello..:

French, Heather M. ; Leeman, Kristen T. ; Wambach, Jennifer A....
Journal of Perinatology. 42 (2021) 2 - p. 291-291 , 2021

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

13

Patient-specific iPSCs carrying an SFTPC mutation reveal th..:

Alysandratos, Konstantinos-Dionysios ; Russo, Scott J. ; Petcherski, Anton...
Cell Reports. 36 (2021) 9 - p. 109636 , 2021

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

14

Essentials of Neonatal-Perinatal Medicine fellowship: an ov..:

French, Heather M. ; Leeman, Kristen T. ; Wambach, Jennifer A....
Journal of Perinatology. 42 (2021) 2 - p. 269-276 , 2021

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

15

Whole exome sequencing and functional characterization incr..:

Luna, Sofia E. ; Wegner, Daniel J. ; Gale, Sarah...
The Journal of Steroid Biochemistry and Molecular Biology. 212 (2021) - p. 105908 , 2021

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