E-LIB Suche - Ergebnisse für: Rush, Eric T.

1

Correction: Hypophosphatasia diagnosis: current state of th..:

Khan, Aliya A. ; Brandi, Maria Luisa ; Rush, Eric T....
Osteoporosis International. 35 (2024) 5 - p. 933-934 , 2024

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

2

Improvement in quality of life after Asfotase Alfa treatmen..:

Dahir, Kathryn M ; Ing, Steven W ; Deal, Chad...
JBMR Plus. , 2024

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

3

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

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

4

The Global ALPL gene variant classification project: Dedica..:

Farman, Mariam R. ; Rehder, Catherine ; Malli, Theodora...
Bone. 178 (2024) - p. 116947 , 2024

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

5

The Medical Writing Center Model in an Academic Teaching Ho..:

McNeill, Heather C. ; Hill, Jacqueline D. ; Chandler, Myles..
Journal of Clinical Psychology in Medical Settings. , 2024

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

6

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

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

7

The challenge of hypophosphatasia diagnosis in adults: resu..:

Brandi, Maria Luisa ; Khan, Aliya A. ; Rush, Eric T....
Osteoporosis International. 35 (2023) 3 - p. 439-449 , 2023

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

8

Insurance denials and diagnostic rates in a pediatric genom..:

Zion, Tricia N. ; Berrios, Courtney D. ; Cohen, Ana S.A....
Genetics in Medicine. 25 (2023) 5 - p. 100020 , 2023

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

9

Development of a Multidisciplinary Clinic for Patients with..:

Black, William R ; Jones, Jordan T ; Rush, Eric T..
Journal of Multidisciplinary Healthcare. 16 (2023) - p. 191-195 , 2023

Link: https://doi.org/10.2147/..

10

Approach to the Patient: Pharmacological Therapies for Frac..:

Liu, Winnie ; Lee, Brendan ; Nagamani, Sandesh C S...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 7 - p. 1787-1796 , 2023

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

11

Hypophosphatasia diagnosis: current state of the art and pr..:

Khan, Aliya A. ; Brandi, Maria Luisa ; Rush, Eric T....
Osteoporosis International. 35 (2023) 3 - p. 431-438 , 2023

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

12

Gender dysphoria in adolescents with Ehlers–Danlos syndrome:

Jones, Jordan T. ; Black, William R. ; Moser, Christine N...
SAGE Open Medicine. 10 (2022) - p. 205031212211460 , 2022

Link: https://doi.org/10.1177/..

13

Investigation of ALPL variant states and clinical outcomes:..:

Kishnani, Priya S. ; del Angel, Guillermo ; Zhou, Shanggen.
Molecular Genetics and Metabolism. 133 (2021) 1 - p. 113-121 , 2021

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

14

Nager syndrome in patient lacking acrofacial dysostosis: Ex..:

Cadieux‐Dion, Maxime ; Hughes, Susan ; Engleman, Kendra..
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1515-1518 , 2021

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

15

Molecular Diagnoses of X-Linked and Other Genetic Hypophosp..:

Rush, Eric T. ; Johnson, Britt ; Aradhya, Swaroop...
Journal of Bone and Mineral Research. 37 (2020) 2 - p. 202-214 , 2020

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