E-LIB Suche - Ergebnisse für: Pletcher, Beth

1

P284: Clinical overlap in two patients with 46,XY DSD and l..:

Shields, Kathleen ; Kresge, Christina ; Pletcher, Beth..
Genetics in Medicine Open. 2 (2024) - p. 101180 , 2024

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

2

Management of an older Marshall-Smith syndrome patient: a r..:

Khurana, Eeshan ; Orth, Jennifer ; Pletcher, Beth..
Child's Nervous System. , 2024

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

3

Long‐term outcomes in ALG13‐Congenital Disorder of Glycosyl..:

Shah, Rameen ; Johnsen, Christin ; Pletcher, Beth A....
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1626-1631 , 2023

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

4

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain. 146 (2023) 8 - p. 3528-3541 , 2023

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

5

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syn..:

Upadhyay, Ravi ; Ruane, Claire ; Umans, Rachel...
Case Reports in Endocrinology. 2022 (2022) - p. 1-4 , 2022

Link: https://doi.org/10.1155/..

6

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

7

A trauma-informed approach to the pediatric COVID-19 respon..:

Chokshi, Binny ; Pletcher, Beth A. ; Strait, Joshua S.
Current Problems in Pediatric and Adolescent Health Care. 51 (2021) 2 - p. 100970 , 2021

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

8

Pulmonary Manifestations of Genetic Disorders in Children:

Pletcher, Beth A. ; Turcios, Nelson L.
Pediatric Clinics of North America. 68 (2021) 1 - p. 1-24 , 2021

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

9

46,XY DSD and limb abnormalities in a female with a de novo..:

Kunitomo, Mia ; Khokhar, Aditi ; Kresge, Christina..
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2887-2890 , 2020

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

10

Beyond circles and squares: A commentary on updating pedigr..:

Tuite, Allysa ; Dalla Piazza, Michelle ; Brandi, Kristyn.
Journal of Genetic Counseling. 29 (2020) 3 - p. 435-439 , 2020

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

11

Adverse Childhood Experiences: A Case-Based Workshop Introd..:

Pletcher, Beth A. ; O'Connor, Mary ; Swift-Taylor, Mary Elizabeth.
MedEdPORTAL. , 2019

Link: https://doi.org/10.15766..

12

Vertebral artery aneurysm rupture and hemothorax in a patie..:

Abdulrazeq, Hael F. ; Goldstein, Ira M. ; Elsamna, Samer T..
Heliyon. 5 (2019) 8 - p. e02201 , 2019

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

13

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel ..:

Thulasi, Venkatraman ; Veerapandiyan, Aravindhan ; Pletcher, Beth A...
Child Neurology Open. 4 (2017) - p. 2329048X1772561 , 2017

Link: https://doi.org/10.1177/..

14

An Adult Presenting with Neurological Symptoms Attributed t..:

Segal, Devorah ; Sheikh, Zubeda ; Shahbahrami, Kevin...
Neurology. 84 (2015) 14_supplement - p. , 2015

Link: https://doi.org/10.1212/..

15

Unraveling Gene Interactions in Patients with Neurofibromat..:

Pletcher, Beth A. ; Hayes-Rosen, Caroline
The Journal of Pediatrics. 167 (2015) 3 - p. 511-513 , 2015

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