E-LIB Suche - Ergebnisse für: Strom, Samuel P.

1

Parkinson's disease variant detection and disclosure: PD GE..:

Cook, Lola ; Verbrugge, Jennifer ; Schwantes-An, Tae-Hwi...
Brain. 147 (2024) 8 - p. 2668-2679 , 2024

2

Next‐generation sequencing and analysis of consecutive pati..:

Steinle, Jacob ; Hossain, Waheeda A. ; Veatch, Olivia J...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3016-3023 , 2022

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

3

Somatic non-cancerous overgrowth syndrome of obscure molecu..:

Garneau, Alexandre P. ; Haydock, Ludwig ; Tremblay, Laurence E....
Journal of Molecular Medicine. 100 (2022) 7 - p. 1087-1090 , 2022

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

4

Assessing Variant Causality and Severity Using Retinal Pigm..:

Matynia, Anna ; Wang, Jun ; Kim, Sangbae...
Translational Vision Science & Technology. 11 (2022) 3 - p. 33 , 2022

Link: https://doi.org/10.1167/..

5

A Streamlined Approach to Prader-Willi and Angelman Syndrom..:

Strom, Samuel P. ; Hossain, Waheeda A. ; Grigorian, Melina...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

6

The Value of Parental Testing by Next-Generation Sequencing..:

Brewer, Casey J. ; Gillespie, Meghan ; Fierro, Joseph...
The Journal of Molecular Diagnostics. 22 (2020) 5 - p. 670-678 , 2020

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

7

Disruption of CTNND2, encoding delta-catenin, causes a pene..:

Adegbola, Abidemi ; Lutz, Richard ; Nikkola, Elina...
Human Genetics and Genomics Advances. 1 (2020) 1 - p. 100007 , 2020

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

8

Geleophysic dysplasia: 48 year clinical update with emphasi..:

Legare, Janet M. ; Modaff, Peggy ; Strom, Samuel P...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2237-2242 , 2018

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

9

Coupling clinical exome sequencing with functional characte..:

Mullegama, Sureni V. ; Jensik, Phillip ; Li, Chen...
Clinical Case Reports. 5 (2017) 6 - p. 833-840 , 2017

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

10

De novo loss‐of‐function variants in STAG2 are associated w..:

Mullegama, Sureni V. ; Klein, Steven D. ; Mulatinho, Milene V....
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1319-1327 , 2017

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

11

Novel association of familial testicular germ cell tumor an..:

Truscott, Laurel ; Gell, Joanna ; Chang, Vivian Y....
Pediatric Blood & Cancer. 64 (2016) 1 - p. 100-102 , 2016

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

12

De Novo Occurrence of a Variant in ARL3 and Apparent Autoso..:

Strom, Samuel P. ; Clark, Michael J. ; Martinez, Ariadna...
PLOS ONE. 11 (2016) 3 - p. e0150944 , 2016

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

13

An infant with MLH3 variants, FOXG1‐duplication and multipl..:

Kansal, Rina ; Li, Xinmin ; Shen, Joseph...
Genes, Chromosomes and Cancer. 55 (2015) 2 - p. 131-142 , 2015

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

14

Clinical exome sequencing in neurogenetic and neuropsychiat..:

Fogel, Brent L. ; Lee, Hane ; Strom, Samuel P...
Annals of the New York Academy of Sciences. 1366 (2015) 1 - p. 49-60 , 2015

Link: https://doi.org/10.1111/..

15

TOX3 is expressed in mammary ER+ epithelial cells and regul..:

Seksenyan, Akop ; Kadavallore, Asha ; Walts, Ann E...
BMC Cancer. 15 (2015) 1 - p. , 2015

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