Suchergebnisse - "Agrawal, Pankaj B"

PubPharm (251)

1

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

enthalten in: bioRxiv.org | 2024

von Lemire, G. | Sanchis-Juan, A. | Russell, K. | +61

2

High number of candidate gene variants are identified as disease-causing in a period of 4 years

enthalten in: American journal of medical genetics. Part A | 2024

von Hills, S. | Li, Q. | Madden, J. | +5

3

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

enthalten in: American journal of human genetics | 2024

von Lemire, G. | Sanchis-Juan, A. | Russell, K. | +61

UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196

4

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

enthalten in: Journal of perinatology : official journal of the California Perinatal Association | 2024

von D'Souza, E. | Findley, T. | Hu, R. | +8

5

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

enthalten in: American journal of medical genetics. Part A | 2024

von Forghani, I. | Lang, S. | Rodier, M. | +106

6

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units : protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

enthalten in: BMJ open | 2024

von D'Gama, A. | Hills, S. | Douglas, J. | +38

7

Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes

enthalten in: Basic research in cardiology | 2024

von Li, G. | Huang, H. | Wu, Y. | +11

8

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

enthalten in: bioRxiv.org | 2024

von Luo, S. | Rollins, S. | Schmitz-Abe, K. | +6

9

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2024

von Hills, S. | Li, Q. | Madden, J. | +5

10

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

enthalten in: Molecular genetics and metabolism reports | 2024

von Alsubhi, A. | Aldarwish, M. | Agrawal, P. | +5

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[26]