E-LIB Suche - Ergebnisse für: Welsh, Holly A.

1

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/..

2

Insurance denials and diagnostic rates in a pediatric genom..:

Zion, Tricia N. ; Berrios, Courtney D. ; Cohen, Ana S.A....
Genetics in Medicine. 25 (2023) 5 - p. 100020 , 2023

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

3

Phenotypic expansion and variable expressivity in individua..:

Cadieux‐Dion, Maxime ; Farrow, Emily ; Thiffault, Isabelle...
Clinical Genetics. 102 (2022) 2 - p. 136-141 , 2022

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

4

Phenotypic characterization of JARID2-related intellectual ..:

Cadieux-Dion, Maxime ; Farrow, Emily ; Welsh, Holly...
Molecular Genetics and Metabolism. 132 (2021) - p. S282 , 2021

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

5

Utilization of next generation sequencing to characterize d..:

Herriges, John ; Thiffault, Isabelle ; Alaimo, Joseph T....
Molecular Genetics and Metabolism. 132 (2021) - p. S284 , 2021

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

6

43. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) & VACT..:

Kresie, Elizabeth ; Lawson, Ashli ; Welsh, Holly.
Journal of Pediatric and Adolescent Gynecology. 33 (2020) 2 - p. 196 , 2020

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

7

Novel mosaic SRY gene deletions in three newborn males with..:

Roberts, Jennifer ; Lyalin, Dmitry ; Tosatto, Norwood...
American Journal of Medical Genetics Part A. 176 (2018) 9 - p. 2017-2023 , 2018

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

8

Hypotonia and intellectual disability without dysmorphic fe..:

Thiffault, Isabelle ; Zuccarelli, Britton ; Welsh, Holly...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

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

9

Effect of Silica Polymerization on the Oxalate-Promoted Dis..:

Eick, Matthew J. ; Luxton, Todd P. ; Welsh, Holly A.
Clays and Clay Minerals. 57 (2009) 5 - p. 578-585 , 2009

Link: https://doi.org/10.1346/..

10

A patient with polymerase E1 deficiency (POLE1): clinical f..:

Thiffault, Isabelle ; Saunders, Carol ; Jenkins, Janda...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

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

11

Family history and clefting as major criteria for CHARGE sy..:

Hughes, Susan Starling ; Welsh, Holly I. ; Safina, Nicole P...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 48-53 , 2013

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

12

CDKN1C mutations and genital anomalies:

Welsh, Holly I. ; Stockley, Tracy L. ; Parkinson, Nicole.
American Journal of Medical Genetics Part A. 158A (2011) 1 - p. 265-265 , 2011

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

13

Insurance denials and diagnostic rates in a pediatric genom..:

Zion, Tricia N ; Berrios, Courtney D ; Cohen, Ana S.A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584034/. , 2023

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

14

A patient with polymerase E1 deficiency (POLE1): clinical f..:

Thiffault, Isabelle ; Saunders, Carol ; Jenkins, Janda...
http://www.biomedcentral.com/1471-2350/16/31. , 2015

Link: http://www.biomedcentral..

15

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

Isabelle Thiffault ; Joseph Alaimo ; Vitoria Paolillo...
http://www.sciencedirect.com/science/article/pii/S2949774423006180. , 2023

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