Suchergebnisse - "Jamuar, Saumya S"

PubPharm (38)

1

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia

enthalten in: Clinical dysmorphology | 2024

von Goh, J. | Wei, H. | Lai, A. | +5

2

Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling

enthalten in: Molecular genetics & genomic medicine | 2024

von Chin, H. | Benton, M. | Yang, L. | +8

3

Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling

enthalten in: Molecular Genetics & Genomic Medicine | 2024

von Chin, H. | Benton, M. | Yang, L. | +8

4

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations

enthalten in: Retina (Philadelphia, Pa.) | 2023

von Chan, C. | Tan, T. | Jain, K. | +9

5

Identification of a de novo Case of COL3A1-Related Ehlers-Danlos Syndrome in a Young Woman Presenting With Spontaneous Direct Carotid-Cavernous Fistula

enthalten in: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2023

von Oo, H. | Swaminathan, S. | Lee, W. | +4

6

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

enthalten in: Journal of pediatric genetics | 2023

von Lin, G. | Wei, H. | Lai, A. | +6

7

Unmet needs in countries participating in the undiagnosed diseases network international : an international survey considering national health care and economic indicators

enthalten in: Frontiers in public health | 2023

von Sciascia, S. | Roccatello, D. | Salvatore, M. | +29

8

Undiagnosed diseases : Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

enthalten in: Frontiers in public health | 2023

von Taruscio, D. | Salvatore, M. | Lumaka, A. | +29

9

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

enthalten in: Nature communications | 2022

von Chan, S. | Bylstra, Y. | Teo, J. | +84

10

GA4GH : International policies and standards for data sharing across genomic research and healthcare

enthalten in: Cell genomics | 2021

von Rehm, H. | Page, A. | Smith, L. | +98