E-LIB Suche - Ergebnisse für: Au, Kit Sing

1

805 Morphometric analysis of spina bifida (SB) to associate..:

Mann, Lovepreet ; Pandiri, Shreya ; Garnett, Jeannine...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S428-S429 , 2024

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

2

Common epilepsy variants from the general population are no..:

Richard, Melissa A. ; Lupo, Philip J. ; Ehli, Erik A....
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

3

ARMC5 controls the degradation of most Pol II subunits, and..:

Luo, Hongyu ; Lao, Linjiang ; Au, Kit Sing...
Genome Biology. 25 (2024) 1 - p. , 2024

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

4

Risk of meningomyelocele mediated by the common 22q11.2 del..:

Vong, Keng Ioi ; Lee, Sangmoon ; Au, Kit Sing...
Science. 384 (2024) 6695 - p. 584-590 , 2024

Link: https://doi.org/10.1126/..

5

Differences between myelomeningocele and myeloschisis lesio..:

Garnett, Jeannine ; Bergh, Eric P. ; Mann, Lovepreet...
American Journal of Obstetrics and Gynecology. 228 (2023) 1 - p. S383-S384 , 2023

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

6

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene. 877 (2023) - p. 147566 , 2023

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

7

SRSF1 haploinsufficiency is responsible for a syndromic dev..:

Bogaert, Elke ; Garde, Aurore ; Gautier, Thierry...
The American Journal of Human Genetics. 110 (2023) 5 - p. 790-808 , 2023

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

8

Whole exome sequencing identifies potential candidate genes..:

Wang, Chunyan ; Seltzsam, Steve ; Zheng, Bixia...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1355-1367 , 2022

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

9

Burden of rare deleterious variants in WNT signaling genes ..:

Hebert, Luke ; Hillman, Paul ; Baker, Craig...
PLOS ONE. 15 (2020) 9 - p. e0239083 , 2020

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

10

Epilepsy Risk Prediction Model for Patients With Tuberous S..:

Farach, Laura S. ; Richard, Melissa A. ; Lupo, Philip J....
Pediatric Neurology. 113 (2020) - p. 46-50 , 2020

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

11

Identification of novel candidate risk genes for myelomenin..:

Hillman, Paul ; Baker, Craig ; Hebert, Luke...
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020

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

12

Tuberous Sclerosis Complex Genotypes and Developmental Phen..:

Farach, Laura S. ; Pearson, Deborah A. ; Woodhouse, John P....
Pediatric Neurology. 96 (2019) - p. 58-63 , 2019

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

13

Genetics, genomics, and genotype–phenotype correlations of ..:

Peron, Angela ; Au, Kit Sing ; Northrup, Hope
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 3 - p. 281-290 , 2018

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

14

TSC2 c.1864C>T variant associated with mild cases of tubero..:

Farach, Laura S. ; Gibson, William T. ; Sparagana, Steven P....
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 771-775 , 2017

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

15

Finding the genetic mechanisms of folate deficiency and neu..:

Au, Kit Sing ; Findley, Tina O. ; Northrup, Hope
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3042-3057 , 2017

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