E-LIB Suche - Ergebnisse für: Wilson, Theodore E.

1

Further evidence of involvement of ITSN1 in autosomal domin..:

Liaqat, Khurram ; Treat, Kayla ; Wilson, Theodore E...
Clinical Genetics. 105 (2024) 4 - p. 455-456 , 2024

2

Dicarboxylic acylcarnitine biomarkers in peroxisome biogene..:

Wangler, Michael F. ; Lesko, Barbara ; Dahal, Rejwi...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107680 , 2023

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

3

Biochemical and molecular confirmation of alkaptonuria in a..:

Fayette, Melissa A. ; Booth, Kevin T.A. ; Lynnes, Ty C....
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107628 , 2023

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

4

A 2-Year-Old Child with Alazami Syndrome with Newly Reporte..:

Fauntleroy-Love, Kristin D. ; Wilson, Theodore E. ; Padem, Nurcicek.
Child Neurology Open. 10 (2023) - p. , 2023

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

5

An investigation of preceptors' perceptions of behavioral e..:

Delk, Paula ; Bowling, Isabella ; Schroeder, Courtney...
Journal of Genetic Counseling. 32 (2022) 2 - p. 325-341 , 2022

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

6

De Novo ZMYND8 variants result in an autosomal dominant neu..:

Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R....
Genetics in Medicine. 24 (2022) 9 - p. 1952-1966 , 2022

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

7

Exploring parents' perceptions of the value of pediatric ge..:

Brown, Courtney ; Head, Katharine J. ; Hartsock, Jane...
Journal of Genetic Counseling. , 2021

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

8

Consideration of a metabolic disorder in the differential o..:

Tramontana, Timothy F. ; Wilson, Theodore E. ; Hainline, Bryan E.
JIMD Reports. 59 (2021) 1 - p. 16-19 , 2021

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

9

An adult female with 5q34-q35.2 deletion: A rare syndromic ..:

Arya, Priyanka ; Wilson, Theodore E. ; Parent, John J....
European Journal of Medical Genetics. 63 (2020) 4 - p. 103797 , 2020

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

10

An Infant Presenting with Large, Asymmetric Tongue:

Golomb, Meredith R. ; Radhakrishnan, Rupa ; Wilson, Theodore E.
The Journal of Pediatrics. 227 (2020) - p. 318-319 , 2020

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

11

Case report of two children with auditory neuropathy spectr..:

Harper, Jonathan L. ; Wilson, Theodore E. ; Mitchell, Ryan M.
International Journal of Pediatric Otorhinolaryngology. 131 (2020) - p. 109863 , 2020

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

12

FetalMRIand ultrasound findings of a confirmed asparagine s..:

Churchill, Lauren E. ; Delk, Paula R. ; Wilson, Theodore E....
Prenatal Diagnosis. 40 (2020) 10 - p. 1343-1347 , 2020

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

13

Home testing for COVID-19: lessons from direct to consumer ..:

Wilson, Theodore E. ; Halverson, Colin
Journal of Community Genetics. 11 (2020) 4 - p. 497-499 , 2020

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

14

Bathing suit ichthyosis: Two Burmese siblings and a review ..:

Li, Wendy ; Oberlin, Kate E. ; Wilson, Theodore E..
Pediatric Dermatology. 37 (2019) 1 - p. 165-170 , 2019

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

15

The Bedside Dysmorphologist A Guide to Identifying and Asse..:

Wilson, Theodore E.
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3347-3347 , 2016

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