E-LIB Suche - Ergebnisse für: Schwartz, Alison

1

Development and evaluation of INT2GRATE: a platform for com..:

Isidro, Raymond A. ; Chittenden, Anu ; Walker, McKenzie...
Frontiers in Oncology. 13 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

An optimized protocol for evaluating pathogenicity of VHL g..:

Koeller, Diane R. ; Manning, Danielle K. ; Schwartz, Alison...
MethodsX. 9 (2022) - p. 101761 , 2022

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

3

An integrated somatic and germline approach to aid interpre..:

Schwartz, Alison ; Manning, Danielle K. ; Koeller, Diane R....
Frontiers in Oncology. 12 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Vulvar Melanoma in association with germline MITF p.E318K v..:

Koeller, Diane R. ; Schwartz, Alison ; DeSimone, Mia S....
Cancer Genetics. 262-263 (2022) - p. 102-106 , 2022

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

5

Introduction of the genetic counseling profession by teache..:

Sveden, Abigail ; Schwartz, Alison ; Breen, Katelyn..
Journal of Genetic Counseling. 32 (2022) 2 - p. 411-424 , 2022

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

6

Pathogenicity of VHL variants in families with non-syndromi..:

Rana, Huma Q. ; Koeller, Diane R. ; Schwartz, Alison...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104359 , 2021

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

7

A randomized controlled trial of an online health tool abou..:

Majewski, Lisa ; Mast, Jawanda ; Skavlem, Melissa...
Genetics in Medicine. 23 (2021) 1 - p. 163-173 , 2021

Link: https://doi.org/10.1038/..

8

Correction: A randomized controlled trial of an online heal..:

Chung, Jeanhee ; Donelan, Karen ; Macklin, Eric A....
Genetics in Medicine. 23 (2021) 1 - p. 236 , 2021

Link: https://doi.org/10.1038/..

9

Assessment of genomic alterations in non-syndromic von Hipp..:

Manning, Danielle K. ; Shivdasani, Priyanka ; Koeller, Diane R....
Data in Brief. 39 (2021) - p. 107653 , 2021

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

10

Endocrine manifestations of Down syndrome:

Whooten, Rachel ; Schmitt, Jessica ; Schwartz, Alison
Current Opinion in Endocrinology, Diabetes & Obesity. 25 (2018) 1 - p. 61-66 , 2018

Link: https://doi.org/10.1097/..

11

Cognitive and motor functioning in elderly glucocerebrosida..:

Moran, Eileen E. ; Wang, Cuiling ; Katz, Mindy...
Neurobiology of Aging. 58 (2017) - p. 239.e1-239.e7 , 2017

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

12

Thyroid dysfunction in patients with Down syndrome: Results..:

Lavigne, Jenifer ; Sharr, Christianne ; Elsharkawi, Ibrahim...
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1539-1545 , 2017

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

13

Rapid clinical deterioration in an individual with Down syn..:

Jacobs, Julia ; Schwartz, Alison ; McDougle, Christopher J..
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1899-1902 , 2016

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

14

Detecting celiac disease in patients with Down syndrome:

Sharr, Christianne ; Lavigne, Jenifer ; Elsharkawi, Ibrahim M. A....
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3098-3105 , 2016

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

15

National down syndrome patient database: Insights from the ..:

Lavigne, Jenifer ; Sharr, Christianne ; Ozonoff, Al...
American Journal of Medical Genetics Part A. 167 (2015) 11 - p. 2520-2526 , 2015

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