Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Chung, Wendy K
6852  Ergebnisse:
Personensuche X
?
1

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports.  , 2024
Link: https://doi.org/10.1016/..
 
?
2

Urinary Androgens Provide Additional Evidence Related to Me..:

Scott, Sasinya N ; Siguencia, Marvin ; Stanczyk, Frank Z...
Journal of the Endocrine Society.  8 (2024)  3 - p. , 2024
Link: https://doi.org/10.1210/..
 
?
3

A new type of blood–brain barrier aminoacidopathy underlies..:

Odeh, Maali ; Sajrawi, Clara ; Majcher, Adam...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
?
4

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine.  26 (2024)  3 - p. 101034 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Motor difficulties in 16p11.2 copy number variation:

Jutla, Amandeep ; Harvey, Loraine ; Veenstra‐VanderWeele, Jeremy.
Autism Research.  17 (2024)  5 - p. 906-916 , 2024
Link: https://doi.org/10.1002/..
 
?
6

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental d..:

Sudnawa, Khemika K. ; Garber, Alison ; Cohen, Ryan...
Clinical Genetics.  105 (2024)  5 - p. 523-532 , 2024
Link: https://doi.org/10.1111/..
 
?
7

Pediatric cardiomyopathy illustrates the importance of rein..:

Lee, Teresa M. ; Miller, Erin ; Sridhar, Arthi...
Progress in Pediatric Cardiology.  , 2024
Link: https://doi.org/10.1016/..
 
?
8

Pilot study of a decision aid on BRCA1/2 genetic testing am..:

Trivedi, Meghna S. ; Manley, Haley ; Yi, Haeseung...
Familial Cancer.  , 2024
Link: https://doi.org/10.1007/..
 
?
9

Improvement of variant reclassification in genetic neurodev..:

Kowanda, Michelle ; Smith, Rebecca Sheedy ; Lundy, Jamie...
Genetics in Medicine Open.  2 (2024)  - p. 101845 , 2024
Link: https://doi.org/10.1016/..
 
?
10

Understanding Social, Cultural, and Religious Factors Influ..:

Yi, Haeseung ; Trivedi, Meghna S. ; Crew, Katherine D....
Public Health Genomics.  , 2024
Link: https://doi.org/10.1159/..
 
?
11

Pathogenic heterozygous TRPM7 variants and hypomagnesemia w..:

Bosman, Willem ; Butler, Kameryn M ; Chang, Caitlin A...
Clinical Kidney Journal.  , 2024
Link: https://doi.org/10.1093/..
 
?
12

Heterogeneity of comprehensive clinical phenotype and longi..:

Sudnawa, Khemika K. ; Li, Wenxing ; Calamia, Sean...
Genetics in Medicine.  26 (2024)  8 - p. 101169 , 2024
Link: https://doi.org/10.1016/..
 
?
13

An Opportunity to Fill a Gap for Newborn Screening of Neuro..:

Chung, Wendy K. ; Kanne, Stephen M. ; Hu, Zhanzhi
International Journal of Neonatal Screening.  10 (2024)  2 - p. 33 , 2024
Link: https://doi.org/10.3390/..
 
?
14

Characterizing ambulatory function in children with PPP2R5D..:

Zreibe, Kyle ; Kanner, Cara H. ; Uher, David...
Gait & Posture.  110 (2024)  - p. 77-83 , 2024
Link: https://doi.org/10.1016/..
 
?
15

Validation of a modified version of the gross motor functio..:

Kanner, Cara H. ; Uher, David ; Zreibe, Kyle...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
1-15