E-LIB Suche - Ergebnisse für: Cherny, Sara

1

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2750-2759 , 2022

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

2

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/..

3

Abnormal Microarray, Clinical Outcomes, and Surgical Risk S..:

McAfee, Kelsey ; Rosenow, Will T. ; Cherny, Sara...
Pediatric Cardiology. 42 (2021) 8 - p. 1785-1791 , 2021

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

4

Changes in genetic variant results over time in pediatric c..:

Cherny, Sara ; Olson, Rachael ; Chiodo, Kathryn..
Journal of Genetic Counseling. 30 (2020) 1 - p. 229-236 , 2020

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

5

Clinical diagnostic exome evaluation for an infant with a l..:

Powis, Zöe ; Hart, Alexa ; Cherny, Sara...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

6

Primary care patients' views and decisions about, experienc..:

Wasson, Katherine ; Sanders, Tonya Nashay ; Hogan, Nancy S...
Journal of Community Genetics. 4 (2013) 4 - p. 495-505 , 2013

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

7

The Genome Book: A Must‐Have Guide to Your DNA for Maximum ..:

Cherny, Sara
Journal of Genetic Counseling. 19 (2009) 1 - p. 97-98 , 2009

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

8

Ubiquilin 1 polymorphisms are not associated with late‐onse..:

Smemo, Scott ; Nowotny, Petra ; Hinrichs, Anthony L....
Annals of Neurology. 59 (2005) 1 - p. 21-26 , 2005

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

9

Biallelic loss-of-function variants in PLD1 cause congenita..:

Lahrouchi, Najim ; Postma, Alex V ; Salazar, Christian M...
https://research.rug.nl/en/publications/53049ee0-e2ec-4c81-9812-a3083d829f39. , 2021

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

10

Biallelic loss-of-function variants in PLD1 cause congenita..:

Lahrouchi, Najim ; Postma, Alex V ; Salazar, Christian M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919725/. , 2021

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

11

Abnormal Microarray, Clinical Outcomes and Surgical Risk Sc..:

McAfee, Kelsey ; Rosenow, Will T ; Cherny, Sara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8557123/. , 2021

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

12

Changes in Genetic Variant Results Over Time in Pediatric C..:

Cherny, Sara ; Olson, Rachael ; Chiodo, Kathryn..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188401/. , 2020

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

13

Cardiac Evaluation of Children with a Family History of Sud..:

Webster, Gregory ; Olson, Rachael ; Schoppen, Zachary J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690372/. , 2019

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

14

Reply: Familial Hypercholesterolemia Causes Sudden Death:

Webster, Gregory ; Olson, Rachael ; Balmert, Lauren C..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7906250/. , 2019

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

15

A Case for Inclusion of Genetic Counselors in Cardiac Care:

Arscott, Patricia ; Caleshu, Colleen ; Kotzer, Katrina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715801/. , 2016

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