E-LIB Suche - Ergebnisse für: Saunders, Carol J

1

P225: Efficacy of NGS testing for pediatric endocrine relat..:

Alaimo, Joseph ; Del Viso, Florencia ; Paolillo, Vitoria...
Genetics in Medicine Open. 2 (2024) - p. 101122 , 2024

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

2

O10: Exome-based integrated CNV/SNV analysis as a superior ..:

Saunders, Carol ; Alaimo, Joseph ; Del Viso, Florencia...
Genetics in Medicine Open. 2 (2024) - p. 101014 , 2024

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

3

More Than a Decade of Rapid Genomic Sequencing: Where Are W..:

Saunders, Carol J ; Brunelli, Luca ; Deem, Michael J...
Clinical Chemistry. 70 (2024) 4 - p. 577-583 , 2024

Link: https://doi.org/10.1093/..

4

O24: Unveiling the power of HiFi genome sequencing: One tes..:

Farrow, Emily ; Saunders, Carol ; Gibson, Margaret...
Genetics in Medicine Open. 2 (2024) - p. 101471 , 2024

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

5

P301: Pathogenic NOTCH1 variation displays a spectrum of ca..:

Alaimo, Joseph ; Del Viso, Florencia ; Cohen, Ana S.A....
Genetics in Medicine Open. 2 (2024) - p. 101197 , 2024

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

6

Pseudo-Dystonia and Marked Intrafamilial Variability in CAD..:

Coffman, Keith ; Engleman, Kendra ; Shaffer, Elizabeth..
Pediatric Neurology. 144 (2023) - p. 78-79 , 2023

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

7

P551: GATEways to improved test utilization: Opening doors ..:

Zellmer, Lee ; Rindler, Mary ; Humphrey, Maggie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100598 , 2023

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

8

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

9

Zoo and Aquarium Visitors' Wildlife Values and Ethics Orien..:

, In: Zoos and Aquariums in the Public Mind; Psychology and Our Planet,

Lerner, Heather R. L. ; Fraser, John ; Voiklis, John.. - p. 97-111 , 2023

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

10

P571: Expanding the genetic and phenotypic spectrum of cohe..:

Thiffault, Isabelle ; Alaimo, Joseph ; Paolillo, Vitoria...
Genetics in Medicine Open. 1 (2023) 1 - p. 100618 , 2023

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

11

Novel blended SNRPE‐related spliceosomopathy phenotype char..:

Amudhavalli, Shivarajan M. ; Paolillo, V. ; Lawson, Caitlin...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1425-1429 , 2023

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

12

Non-ownership business models in the manufacturing industry..:

Bock, Maximilian ; Wiener, Martin ; Saunders, Carol
Electronic Markets. 33 (2023) 1 - p. , 2023

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

13

P448: SF3B2-Related cardiac defects and Hirschsprung diseas..:

Del Viso, Florencia ; Zhou, Dihong ; Starling, Susan..
Genetics in Medicine Open. 1 (2023) 1 - p. 100495 , 2023

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

14

POLR1A variants underlie phenotypic heterogeneity in cranio..:

Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru...
The American Journal of Human Genetics. 110 (2023) 5 - p. 809-825 , 2023

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

15

Recurrent FOXP4 nonsense variant in two unrelated patients:..:

Del Viso, Florencia ; Zhou, Dihong ; Thiffault, Isabelle...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 259-264 , 2022

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