E-LIB Suche - Ergebnisse für: Agrawal, Pankaj B.

1

A child with dilated cardiomyopathy and homozygous splice s..:

Alsubhi, Afaf ; Aldarwish, Manar ; Agrawal, Pankaj B....
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101027 , 2024

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

2

Integrated multi‐omics approach reveals the role of striate..:

Li, Qifei ; Lin, Jasmine ; Luo, Shiyu...
Journal of Cachexia, Sarcopenia and Muscle. 15 (2024) 3 - p. 1003-1015 , 2024

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

3

Genomic testing and molecular diagnosis among infants with ..:

D'Souza, Erica E. ; Findley, Tina O. ; Hu, Rachel...
Journal of Perinatology. , 2024

Link: https://doi.org/10.1038/..

4

Implementation of rapid genomic sequencing in safety-net ne..:

D'Gama, Alissa M ; Hills, Sonia ; Douglas, Jessica...
BMJ Open. 14 (2024) 2 - p. e080529 , 2024

Link: https://doi.org/10.1136/..

5

WNT2B Deficiency Causes Enhanced Susceptibility to Colitis ..:

O'Connell, Amy E. ; Raveenthiraraj, Sathuwarman ; Oliveira, Luiz Fernando Silva...
Cellular and Molecular Gastroenterology and Hepatology. 18 (2024) 2 - p. 101349 , 2024

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

6

HBS1L deficiency causes retinal dystrophy in a child and a ..:

Luo, Shiyu ; Alwattar, Bilal ; Li, Qifei...
Disease Models & Mechanisms. , 2024

Link: https://doi.org/10.1242/..

7

The solute carrier family 26 member 9 modifies rapidly prog..:

Luo, Shiyu ; Rollins, Stuart ; Schmitz-Abe, Klaus...
Clinica Chimica Acta. 561 (2024) - p. 119765 , 2024

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

8

"It's hard to wait": Provider Perspectives on Current Genom..:

D'Gama, Alissa M. ; Wojcik, Monica H. ; Hills, Sonia...
Genetics in Medicine. , 2024

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

9

Genomic medicine in neonatal care: progress and challenges:

D'Gama, Alissa M. ; Agrawal, Pankaj B.
European Journal of Human Genetics. 31 (2023) 12 - p. 1357-1363 , 2023

Link: https://doi.org/10.1038/..

10

An intronic variant in TBX4 in a single family with variabl..:

Flanagan, Frances O. ; Holtz, Alexander M. ; Vargas, Sara O....
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

11

X-linked hypophosphatemia in 4 generations due to an exon 1..:

Soto Barros, Julio ; Sanchez, Sabrina I. ; Cabral, Kristin...
Bone. 172 (2023) - p. 116763 , 2023

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

12

High number of candidate gene variants are identified as di..:

Hills, Sonia ; Li, Qifei ; Madden, Jill A....
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

13

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

14

Role of genomic medicine and implementing equitable access ..:

D'Gama, Alissa M. ; Agrawal, Pankaj B.
Journal of Perinatology. 43 (2023) 7 - p. 963-967 , 2023

Link: https://doi.org/10.1038/..

15

Tethered cord syndrome in KBG syndrome:

Hills, Sonia ; Pugacheva, Alisa ; Weltin, Patricia...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1222-1226 , 2023

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