E-LIB Suche - Ergebnisse für: Gold, Nina

1

P017: Phenotypes of adults with MPS1 pseudodeficiency varia..:

O'Grady, Lauren ; Gold, Nina ; Karaa, Amel...
Genetics in Medicine Open. 2 (2024) - p. 100894 , 2024

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

2

P213: Exploring heterogeneity among gene lists proposed for..:

Minten, Thomas ; Adelson, Sophia ; Amendola, Laura...
Genetics in Medicine Open. 2 (2024) - p. 101110 , 2024

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

3

O29: Low rate of hereditary ovarian cancer screening in ind..:

Omorodion, Jacklyn ; Perez, Emma ; Green, Robert..
Genetics in Medicine Open. 2 (2024) - p. 100943 , 2024

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

4

P010: Genetic testing is incompletely sensitive for treatab..:

Bick, Sarah ; Wojcik, Monica ; Green, Robert.
Genetics in Medicine Open. 2 (2024) - p. 100887 , 2024

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

5

P064: Returning genomic risk for hereditary breast and ovar..:

Abbasi, Ilham ; Perez, Emma ; Zouk, Hana...
Genetics in Medicine Open. 2 (2024) - p. 100946 , 2024

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

6

The evolving role of medical geneticists in the era of gene..:

Vockley, Jerry ; Brunetti-Pierri, Nicola ; Chung, Wendy K....
Genetics in Medicine. 25 (2023) 4 - p. 100022 , 2023

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

7

Response to Beretich and Beretich:

Vockley, Jerry ; Brunetti-Pierri, Nicola ; Chung, Wendy K....
Genetics in Medicine. 25 (2023) 10 - p. 100903 , 2023

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

8

P408: Perspectives of rare disease experts on sequencing ne..:

Shah, Nidhi ; Gold, Nina ; Adelson, Sophia...
Genetics in Medicine Open. 1 (2023) 1 - p. 100444 , 2023

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

9

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah ; Campbell, Ian ; Harr, Margaret...
Molecular Genetics and Metabolism. 132 (2021) - p. S183 , 2021

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

10

Low frequency of treatable pediatric disease alleles in gno..:

Gold, Nina ; Harrison, Steven ; Rowe, Jared...
Molecular Genetics and Metabolism. 132 (2021) - p. S326-S328 , 2021

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

11

The person looking out:

Gold, Nina
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 2 - p. 128-129 , 2021

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

12

Heterozygous variants in PRPF8 are associated with neurodev..:

O'Grady, Lauren ; Sweetser, David ; Gold, Nina...
Molecular Genetics and Metabolism. 132 (2021) - p. S109-S110 , 2021

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

13

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E. ; Campbell, Ian M. ; Harr, Margaret H....
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1649-1665 , 2021

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

14

Returning actionable genomic results in a research biobank:..:

Blout Zawatsky, Carrie L. ; Shah, Nidhi ; Machini, Kalotina...
The American Journal of Human Genetics. 108 (2021) 12 - p. 2224-2237 , 2021

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

15

Methemoglobinemia due to ingestion of at most three pills o..:

Gold, Nina A ; Bithoney, William G
The Journal of Emergency Medicine. 25 (2003) 2 - p. 143-148 , 2003

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