E-LIB Suche - Ergebnisse für: Htun, Stephanie

1

P720: Single cell RNA-Seq in zebrafish foxe3 crispants show..:

Moe, Madison ; Sharma, Supriya ; Htun, Stephanie...
Genetics in Medicine Open. 2 (2024) - p. 101624 , 2024

2

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian M ; Burgemeister, Anna L ; Cantagrel, Vincent...
Human Molecular Genetics. 31 (2022) 18 - p. 3083-3094 , 2022

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

3

S1Pdefects cause a new entity of cataract, alopecia, oral m..:

Chen, Fuying ; Ni, Cheng ; Wang, Xiaoxiao...
EMBO Molecular Medicine. 14 (2022) 5 - p. , 2022

Link: https://doi.org/10.15252..

4

De Novo ZMYND8 variants result in an autosomal dominant neu..:

Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R....
Genetics in Medicine. 24 (2022) 9 - p. 1952-1966 , 2022

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

5

Exome sequencing in patients with microphthalmia, anophthal..:

Islam, Farrah ; Htun, Stephanie ; Lai, Li‐Wen...
Clinical Genetics. 98 (2020) 5 - p. 499-506 , 2020

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

6

Biallelic variants in the RNA exosome gene EXOSC5 are assoc..:

Slavotinek, Anne ; Misceo, Doriana ; Htun, Stephanie...
Human Molecular Genetics. 29 (2020) 13 - p. 2218-2239 , 2020

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

7

Use of PTC124 for nonsense suppression therapy targeting BM..:

Krall, Max ; Htun, Stephanie ; Slavotinek, Anne.
PLOS ONE. 14 (2019) 4 - p. e0212121 , 2019

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

8

Biallelic sequence variants in INTS1 in patients with devel..:

Care 4 Rare Canada Consortium ; Krall, Max ; Htun, Stephanie...
European Journal of Human Genetics. 27 (2019) 4 - p. 582-593 , 2019

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

9

Distal transradial artery access in the anatomical snuffbox..:

Aoi, Shunsuke ; Htun, Wah Wah ; Freeo, Stephanie...
Catheterization and Cardiovascular Interventions. 94 (2019) 5 - p. 651-657 , 2019

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

10

Stereotype content model across cultures: Towards universal..:

Cuddy, Amy J. C. ; Fiske, Susan T. ; Kwan, Virginia S. Y....
British Journal of Social Psychology. 48 (2009) 1 - p. 1-33 , 2009

Link: https://doi.org/10.1348/..

11

Effect of a Multidimensional Physical Activity Intervention..:

Müller, Ivan ; Schindler, Christian ; Adams, Larissa...
International Journal of Environmental Research and Public Health. 16 (2019) 2 - p. 232 , 2019

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

12

Disease, activity and schoolchildren's health (DASH) in Por..:

Yap, Peiling ; Müller, Ivan ; Walter, Cheryl...
BMC Public Health. 15 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

13

THU-113 Optimizing thiopurine therapy in autoimmune hepatit..:

Weltzsch, Jan Philipp ; Bartel, Claudius ; Waldmann, Moritz...
Journal of Hepatology. 80 (2024) - p. S316 , 2024

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