E-LIB Suche - Ergebnisse für: Reichert, Sara L.

1

Leveling the field: Development of an asynchronous interact..:

Reichert, Sara L. ; Dechene, Elizabeth ; Lulis, Lauren...
Journal of Genetic Counseling. 33 (2024) 1 - p. 151-155 , 2024

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

2

P532: Development, implementation, and preliminary results ..:

Bedoukian, Emma ; Reichert, Sara ; DeChene, Elizabeth...
Genetics in Medicine Open. 2 (2024) - p. 101431 , 2024

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

3

Continuing education and professional development: Unifying..:

Valverde, Kathleen D. ; Hartman, Tiffiney R. ; Reichert, Sara L....
Genetics in Medicine Open. , 2024

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

4

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open. 2 (2024) - p. 101469 , 2024

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

5

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/..

6

Atypical Williams syndrome in an infant with complete atrio..:

Ahrens‐Nicklas, Rebecca C. ; Reichert, Sara L. ; Zackai, Elaine H..
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 3108-3112 , 2015

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

7

Identification of a novel nonsense mutation in the FOXP3 ge..:

Reichert, Sara L. ; McKay, Eileen M. ; Moldenhauer, Julie S.
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 226-232 , 2015

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

8

HNRNPH1‐related syndromic intellectual disability: Seven ad..:

Reichert, Sara C. ; Li, Rachel ; A. Turner, Scott...
Clinical Genetics. 98 (2020) 1 - p. 91-98 , 2020

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

9

Defining the phenotypic spectrum of SLC6A1 mutations:

Johannesen, Katrine M. ; Gardella, Elena ; Linnankivi, Tarja...
Epilepsia. 59 (2018) 2 - p. 389-402 , 2018

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

10

Diagnosis of 9q22.3 microdeletion syndrome in utero followi..:

Reichert, Sara Chadwick ; Zelley, Kristin ; Nichols, Kim E....
American Journal of Medical Genetics Part A. 167 (2015) 4 - p. 862-865 , 2015

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

11

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
qt1g6176gn. , 2023

Link: https://escholarship.org..

12

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918471/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Recurrent De Novo Mutations Affecting Residue Arg1 38 of Py..:

Fischer-Zirnsak, Bjoern ; Escande-Beillard, Nathalie ; Ganesh, Jaya...
https://research.rug.nl/en/publications/1f0002eb-4e45-4ad1-9eb0-7b67e9270ecc. , 2015

Link: https://hdl.handle.net/1..

14

HNRNPH1 ‐related syndromic intellectual disability: Seven a..:

Reichert, Sara Chadwick ; Li, Rachel ; Turner, Scott...
Versió postprint del document publicat a: https://doi.org/10.1111/cge.13765. , 2020

Link: http://hdl.handle.net/24..

15

Defining the phenotypic spectrum of SLC6A1 mutations:

Johannesen, Katrine M ; Gardella, Elena ; Linnankivi, Tarja...
qt2q37p21v. , 2018

Link: https://escholarship.org..