E-LIB Suche - Ergebnisse für: Paul Hillman

1

P062: A case of ornithine transcarbamylase deficiency:

Campo, Suad Siuffi ; Hillman, Paul ; Rodriguez-Buritica, David
Genetics in Medicine Open. 2 (2024) - p. 100939 , 2024

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

2

P378: Expanding the phenotype of hyper-IgE syndrome: Hetero..:

Zeiger, Jordan ; Hillman, Paul
Genetics in Medicine Open. 2 (2024) - p. 101272 , 2024

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

3

P279: Triple diagnosis of X-linked chondrodysplasia punctat..:

Shields, Kathleen ; Hillman, Paul ; Farach, Laura
Genetics in Medicine Open. 2 (2024) - p. 101175 , 2024

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

4

EXPANDING THE PHENOTYPE OF : DIAGNOSIS OF MULTIPLE FAMILY M..:

Burton, Jennifer ; Richardson, Kate ; Horne, Christine...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107394 , 2023

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

5

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene. 877 (2023) - p. 147566 , 2023

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

6

P184: A case of multiple hemangiomas and arteriovenous malf..:

Gunther, Kathryn ; Hillman, Paul ; Hodjat, Parsa
Genetics in Medicine Open. 1 (2023) 1 - p. 100213 , 2023

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

7

P232: Novel de novo intronic KAT6B variant in 9-year-old fe..:

Liu, Lingying ; Hillman, Paul
Genetics in Medicine Open. 1 (2023) 1 - p. 100260 , 2023

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

8

P231: Homozygous ALDH18A1 variant in siblings adds to under..:

Liu, Lingying ; Hillman, Paul
Genetics in Medicine Open. 1 (2023) 1 - p. 100259 , 2023

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

9

P192: Heterozygous ACTB pathogenic variant causing Baraitse..:

Hill, Jeremy ; Shields, Kathleen ; Rodriguez-Buritica, David..
Genetics in Medicine Open. 1 (2023) 1 - p. 100221 , 2023

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

10

Genetics in the NICU: Nurses' Perceived Knowledge and Desir..:

Shields, Kathleen ; Czerwinski, Jennifer ; Dauwe, Tracie...
The Journal of Continuing Education in Nursing. 54 (2023) 1 - p. 16-24 , 2023

Link: https://doi.org/10.3928/..

11

eP115: Two novel NPR2 variants in a patient with acromesome..:

Dunnington, Leslie ; Banfield, Emilyn ; Hecht, Jacqueline.
Genetics in Medicine. 24 (2022) 3 - p. S72-S73 , 2022

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

12

Identification of a novel microdeletion causative of Nance‐..:

Lopez Martinolich, Mariana ; Northrup, Hope ; Mancias, Pedro...
Molecular Genetics & Genomic Medicine. 10 (2022) 3 - p. , 2022

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

13

eP246: Novel EFTUD2 variant adds to understanding of phenot..:

Shields, Kathleen ; Mowrey, Kate ; Hillman, Paul
Genetics in Medicine. 24 (2022) 3 - p. S156-S157 , 2022

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

14

Burden of rare deleterious variants in WNT signaling genes ..:

Hebert, Luke ; Hillman, Paul ; Baker, Craig...
PLOS ONE. 15 (2020) 9 - p. e0239083 , 2020

Link: https://doi.org/10.1371/..

15

Identification of novel candidate risk genes for myelomenin..:

Hillman, Paul ; Baker, Craig ; Hebert, Luke...
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020

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