E-LIB Suche - Ergebnisse für: McDonald, Marie

1

The interplay of psychosis and non‐compliance with fatal ou..:

Falah, Nadia ; Pendyal, Surekha ; Sasannejad, Cina...
American Journal of Medical Genetics Part A. 194 (2024) 9 - p. , 2024

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

2

Na Lei Makamae

The Treasured Lei

McDonald, Marie A. ; Cote, Jean ; Weissich, Paul R. , [2023]

Link: https://www.degruyter.co..

3

Unraveling non‐participation in genomic research: A complex..:

McConkie‐Rosell, Allyn ; Spillmann, Rebecca C. ; Schoch, Kelly...
Journal of Genetic Counseling. 32 (2023) 5 - p. 993-1008 , 2023

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

4

The SHDRA syndrome-associated geneTMEM260encodes a protein-..:

Larsen, Ida Signe Bohse ; Povolo, Lorenzo ; Zhou, Luping...
Proceedings of the National Academy of Sciences. 120 (2023) 21 - p. , 2023

Link: https://doi.org/10.1073/..

5

High performing male with fragile X syndrome with an unmeth..:

Shieh, Meg ; Amkraut, Keren ; Spiridigliozzi, Gail A....
Clinical Case Reports. 11 (2023) 6 - p. , 2023

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

6

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics. , 2023

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

7

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology. 100 (2023) 6 - p. , 2023

Link: https://doi.org/10.1212/..

8

Spectrum of Phenotypic, Genetic, and Functional Characteris..:

Schwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela...
Neurology. 98 (2022) 20 - p. , 2022

Link: https://doi.org/10.1212/..

9

eP081: Dandy Walker malformation in three unrelated familie..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
Genetics in Medicine. 24 (2022) 3 - p. S53-S54 , 2022

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

10

Rapid Whole Genome Sequencing in Critically Ill Neonates En..:

Beaman, Makenzie ; Fisher, Kimberley ; McDonald, Marie...
Journal of Personalized Medicine. 12 (2022) 11 - p. 1924 , 2022

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

11

A recurrent, de novo pathogenic variant in ARPC4 disrupts a..:

Laboy Cintron, Dianne ; Muir, Alison M. ; Scott, Abbey...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100072 , 2022

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

12

Variant-specific effects define the phenotypic spectrum of ..:

Kreienkamp, Hans-Jürgen ; Wagner, Matias ; Weigand, Heike...
Human Genetics. 141 (2021) 2 - p. 257-272 , 2021

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

13

Early onset severe ATP1A2 epileptic encephalopathy: Clinica..:

Moya-Mendez, Mary E. ; Mueller, David M. ; Pratt, Milton...
Epilepsy & Behavior. 116 (2021) - p. 107732 , 2021

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

14

Opportunities for fellowship education: the first year of t..:

Baker, Peter ; Ables, Holly ; Bedoyan, Jirair...
Molecular Genetics and Metabolism. 132 (2021) - p. S290-S291 , 2021

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

15

A comprehensive testing algorithm for the diagnosis of Fabr..:

Stiles, Ashlee R. ; Zhang, Haoyue ; Dai, Jian...
Molecular Genetics and Metabolism. 130 (2020) 3 - p. 209-214 , 2020

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