E-LIB Suche - Ergebnisse für: Rippert, Alyssa

1

P178: Longitudinal neurodevelopmental and medical outcomes ..:

Rippert, Alyssa ; Cook, Edward ; Nair, Divya..
Genetics in Medicine Open. 2 (2024) - p. 101075 , 2024

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

2

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyo..:

Keisling, Julia ; Bedoukian, Emma ; Burstein, Danielle S....
The Journal of Pediatrics. 265 (2024) - p. 113808 , 2024

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

3

P386: Agenesis of olfactory apparatus due to intragenic del..:

Donoghue, Sarah ; Skraban, Cara ; Squicciarini, Jake...
Genetics in Medicine Open. 2 (2024) - p. 101280 , 2024

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

4

Expanding the clinical phenotype and variant spectrum assoc..:

Sisroe, Talia ; Santos, Attila Dos ; Rippert, Alyssa L....
American Journal of Medical Genetics Part A. , 2024

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

5

P260: Healthcare utilization in pediatric patients with Noo..:

Reef, Rebecca ; Rippert, Alyssa ; Cook, Edward..
Genetics in Medicine Open. 2 (2024) - p. 101156 , 2024

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

6

Genetic counseling for the dystrophinopathies—Practice reso..:

Pickart, Angela M. ; Martin, Ann S. ; Gross, Brianna N....
Journal of Genetic Counseling. , 2024

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

7

Retrospective identification of patients with SRRM2‐related..:

Regan‐Fendt, Kelly E. ; Rippert, Alyssa L. ; Medne, Livija...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2149-2155 , 2023

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

8

Unmasking the challenges of Kabuki syndrome in adulthood: A..:

Priestley, Jessica R. C. ; Rippert, Alyssa L. ; Condit, Courtney...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 2 - p. 128-138 , 2023

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

9

P279: Evaluating the utility of a new pathogenicity predict..:

Rippert, Alyssa ; Trackman, Sarah ; Burstein, Danielle...
Genetics in Medicine Open. 1 (2023) 1 - p. 100307 , 2023

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

10

Evaluating the Utility of a New Pathogenicity Predictor for..:

Rippert, Alyssa L. ; Trackman, Sarah ; Burstein, Danielle...
Human Mutation. 2023 (2023) - p. 1-8 , 2023

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

11

Listening to patients with suspected genetic diagnoses: A n..:

Slocum, Robert B. ; Hurst, Anna C. E. ; Shelley, Ellis...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2023

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

12

Dominant-negative variants in CBX1 cause a neurodevelopment..:

Kuroda, Yukiko ; Iwata-Otsubo, Aiko ; Dias, Kerith-Rae...
Genetics in Medicine. 25 (2023) 7 - p. 100861 , 2023

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

13

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine. 25 (2023) 8 - p. 100863 , 2023

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

14

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry. 299 (2023) 8 - p. 105012 , 2023

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

15

Expansion of clinical and variant spectrum of EEF2‐related ..:

Guo, Rose ; Rippert, Alyssa L. ; Cook, Edward B....
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2602-2609 , 2023

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