E-LIB Suche - Ergebnisse für: Jamuar, Saumya S

1

Undiagnosed diseases: Needs and opportunities in 20 countri..:

Taruscio, Domenica ; Salvatore, Marco ; Lumaka, Aimè...
Frontiers in Public Health. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

2

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
Frontiers in Public Health. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Clinical application of targeted long read sequencing in pr..:

Chin, Hui‐Lin ; Benton, Miles C. ; Yang, Lin...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

4

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine. 23 (2021) 6 - p. 1158-1162 , 2021

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

5

From Big Data to Precision Medicine:

Hulsen, Tim ; Jamuar, Saumya S. ; Moody, Alan R....
Frontiers in Medicine. 6 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

6

Utility of Genetic Testing in Fetal Alcohol Spectrum Disord..:

Jamuar, Saumya S. ; Picker, Jonathan D. ; Stoler, Joan M.
The Journal of Pediatrics. 196 (2018) - p. 270-274.e1 , 2018

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

7

Biallelic mutations in human DCC cause developmental split-..:

Jamuar, Saumya S ; Schmitz-Abe, Klaus ; D'Gama, Alissa M...
Nature Genetics. 49 (2017) 4 - p. 606-612 , 2017

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

8

UGDH germline loss-of-function mutations cause epilepsy and..:

Bosso-Lefèvre, Célia ; Yu, Emily ; Grady, George...
Mechanisms of Development. 145 (2017) - p. S26-S27 , 2017

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

9

List of Contributors:

, In: Genomics, Circuits, and Pathways in Clinical Neuropsychiatry,

Addy, Nii A. ; Almasy, Laura ; Almli, Lynn M.... - p. xix-xxi , 2016

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

10

Somatic Mosaicism and Neurological Diseases:

, In: Genomics, Circuits, and Pathways in Clinical Neuropsychiatry,

Jamuar, Saumya S. ; D'Gama, Alissa M. ; Walsh, Christopher A. - p. 179-199 , 2016

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

11

Down syndrome in diverse populations:

Kruszka, Paul ; Porras, Antonio R. ; Sobering, Andrew K....
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 42-53 , 2016

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

12

Next-generation sequencing using a pre-designed gene panel ..:

Lim, Eileen C. P. ; Brett, Maggie ; Lai, Angeline H. M....
Human Genomics. 9 (2015) 1 - p. , 2015

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

13

Deletion of chromosome 8q22.1, a critical region for Nablus..:

Jamuar, Saumya S. ; Duzkale, Hatice ; Duzkale, Neslihan...
American Journal of Medical Genetics Part A. 167 (2015) 6 - p. 1400-1405 , 2015

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

14

Targeted DNA Sequencing from Autism Spectrum Disorder Brain..:

D'Gama, Alissa M. ; Pochareddy, Sirisha ; Li, Mingfeng...
Neuron. 88 (2015) 5 - p. 910-917 , 2015

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

15

Genomic Variants and Variations in Malformations of Cortica..:

Jamuar, Saumya S. ; Walsh, Christopher A.
Pediatric Clinics of North America. 62 (2015) 3 - p. 571-585 , 2015

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