E-LIB Suche - Ergebnisse für: Bhoj, Elizabeth

1

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

2

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024

Link: https://doi.org/10.1073/..

3

Novel insights into the phenotypic spectrum and pathogenesi..:

Strong, Alanna ; March, Michael E. ; Cardinale, Christopher J....
Genetics in Medicine. , 2024

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

4

Expanding the clinical phenotype and variant spectrum assoc..:

Sisroe, Talia ; Santos, Attila Dos ; Rippert, Alyssa L....
American Journal of Medical Genetics Part A. , 2024

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

5

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108328 , 2024

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

6

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

7

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmenta..:

Gracia-Diaz, Carolina ; Perdomo, Jonathan E. ; Khan, Munir E....
Cell Stem Cell. 31 (2024) 3 - p. 288-289 , 2024

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

8

Genomic sequencing in a cohort of individuals with fibular ..:

Matalon, Dena R. ; Bhoj, Elizabeth J. ; Li, Dong...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 977-982 , 2023

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

9

Cover:

Maj, Mary ; Taylor, Christie L. ; Landau, Kevin...
Molecular Genetics & Genomic Medicine. 11 (2023) 1 - p. , 2023

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

10

P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively ..:

Sobering, Andrew ; Keesee, Victor ; Amellal, Yasseen...
Genetics in Medicine Open. 1 (2023) 1 - p. 100339 , 2023

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

11

A mutational hotspot in AMOTL1 defines a new syndrome of or..:

Strong, Alanna ; Rao, Soumya ; von Hardenberg, Sandra...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1227-1239 , 2023

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

12

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine. 25 (2023) 8 - p. 100863 , 2023

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

13

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMEN..:

Disanza, Brianna ; Angireddy, Rajesh ; Welter, Emma...
IBRO Neuroscience Reports. 15 (2023) - p. S86-S87 , 2023

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

14

P312: Expanding the phenotypic description and allelic hete..:

Daniels, Kadesh ; Board, Sarah ; Brown, Courtney...
Genetics in Medicine Open. 1 (2023) 1 - p. 100340 , 2023

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

15

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL..:

DiSanza, Brianna ; Simons, Cas ; Helman, Guy...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107403 , 2023

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