E-LIB Suche - Ergebnisse für: Ganesh, Vijay S

1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

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

2

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics. 18 (2024) 1 - p. , 2024

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

3

De novo TLK1 and MDM1 mutations in a patient with a neurode..:

Villamor-Payà, Marina ; Sanchiz-Calvo, María ; Smak, Jordann...
iScience. 27 (2024) 6 - p. 109984 , 2024

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

4

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024

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

5

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 30 (2023) 1 - p. 302-302 , 2023

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

6

Variants in DTNA cause a mild, dominantly inherited muscula..:

Nascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023

Link: https://doi.org/10.1007/..

7

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 29 (2023) 1 - p. 180-189 , 2023

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

8

Diagnostic capabilities of nanopore long‐read sequencing in..:

Bruels, Christine C. ; Littel, Hannah R. ; Daugherty, Audrey L....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1302-1309 , 2022

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

9

Fatal Case of Chronic Jamestown Canyon Virus Encephalitis D..:

Solomon, Isaac H. ; Ganesh, Vijay S. ; Yu, Guixia...
Emerging Infectious Diseases. 27 (2021) 1 - p. 238-242 , 2021

Link: https://doi.org/10.3201/..

10

BET1variants establish impaired vesicular transport as a ca..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
EMBO Molecular Medicine. 13 (2021) 12 - p. , 2021

Link: https://doi.org/10.15252..

11

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic He..:

Coulter, Michael E. ; Dorobantu, Cristina M. ; Lodewijk, Gerrald A....
Cell Reports. 24 (2018) 4 - p. 973-986.e8 , 2018

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

12

CHMP1A encodes an essential regulator of BMI1-INK4A in cere..:

Mochida, Ganeshwaran H ; Ganesh, Vijay S ; de Michelena, Maria I...
Nature Genetics. 44 (2012) 11 - p. 1260-1264 , 2012

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

13

Mutations in PNKP cause microcephaly, seizures and defects ..:

Shen, Jun ; Gilmore, Edward C ; Marshall, Christine A...
Nature Genetics. 42 (2010) 3 - p. 245-249 , 2010

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

14

A Homozygous Mutation in the Tight-Junction Protein JAM3 Ca..:

Mochida, Ganeshwaran H. ; Ganesh, Vijay S. ; Felie, Jillian M....
The American Journal of Human Genetics. 87 (2010) 6 - p. 882-889 , 2010

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

15

Genomic and functional profiling of human Down syndrome neu..:

Esposito, Giuseppe ; Imitola, Jaime ; Lu, Jie...
Human Molecular Genetics. 17 (2007) 3 - p. 440-457 , 2007

Link: https://doi.org/10.1093/..