E-LIB Suche - Ergebnisse für: Kannu, Peter

1

Integrative analysis of Lunatic Fringe variants associated ..:

Wengryn, Parker ; Fenrich, Felicity ; Silveira, Karina da Costa...
The FASEB Journal. 38 (2024) 13 - p. , 2024

Link: https://doi.org/10.1096/..

2

A genetic mouse model mimicking MET related human osteofibr..:

Hong, Guoju ; Xie, William ; Ahmed, Kashif...
The FASEB Journal. 38 (2024) 14 - p. , 2024

Link: https://doi.org/10.1096/..

3

P329: A homozygous start-loss mutation in TERF1 causes a sy..:

Anandampillai, Tanvi ; Kannu, Peter ; Dror, Yigal...
Genetics in Medicine Open. 2 (2024) - p. 101223 , 2024

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

4

The Effects of Palovarotene in Patients with Fibrodysplasia..:

Pignolo, Robert J ; Hsiao, Edward C ; Mukaddam, Mona Al...
Future Rare Diseases. 3 (2023) 1 - p. , 2023

Link: https://doi.org/10.2217/..

5

THU181 Evaluation Of Bone Mineral Density In A Cohort Of Ch..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

6

Spondyloepimetaphyseal dysplasia with joint laxity type 2: ..:

Beke, Alexander ; da Costa Silveira, Karina ; Athey, Taryn.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 2 - p. 188-192 , 2023

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

7

Direct Reprogramming of Fibroblasts to Osteoblasts: Techniq..:

Fallah, Asghar ; Beke, Alexander ; Oborn, Connor..
Stem Cells Translational Medicine. 13 (2023) 4 - p. 362-370 , 2023

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

8

CYP26B1-related disorder: expanding the ends of the spectru..:

Silveira, Karina C. ; Fonseca, Inara Chacon ; Oborn, Connor...
Human Genetics. 142 (2023) 11 - p. 1571-1586 , 2023

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

9

Distinct Roles of Histone Lysine Demethylases and Methyltra..:

Reis, Linda M. ; Atilla, Huban ; Kannu, Peter...
Genes. 14 (2023) 1 - p. 216 , 2023

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

10

THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigrati..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

11

Reduction of New Heterotopic Ossification (HO) in the Open‐..:

Pignolo, Robert J. ; Hsiao, Edward C. ; Al Mukaddam, Mona...
Journal of Bone and Mineral Research. 38 (2023) 3 - p. 381-394 , 2023

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

12

OR27-03 Oral Infigratinib Treatment Is Well Tolerated And S..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

13

Functional Characterization of Novel Lunatic Fringe Variant..:

Wengryn, Parker ; Silveira, Karina da Costa ; Oborn, Connor...
Human Mutation. 2023 (2023) - p. 1-12 , 2023

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

14

Hypomorphic GINS3 variants alter DNA replication and cause ..:

McQuaid, Mary E. ; Ahmed, Kashif ; Tran, Stephanie...
JCI Insight. 7 (2022) 10 - p. , 2022

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

15

Prenatal Genetic Testing in the Era of Next Generation Sequ..:

Almubarak, Asra ; Zhang, Dan ; Kosak, Mackenzie...
Genes. 13 (2022) 11 - p. 2019 , 2022

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