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PubPharm (282)

1

Yield and Utility of Routine Epilepsy Panel Genetic Testing Among Young Patients With Seizures

enthalten in: Journal of child neurology | 2024

von Grew, E. | Reddy, M. | Reichner, H. | +3

2

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy

enthalten in: Journal of medical genetics | 2024

von Xu, L. | Wang, Y. | Wang, W. | +7

3

The Genetic Profile of Large B-Cell Lymphomas Presenting in the Ocular Adnexa

enthalten in: International journal of molecular sciences | 2024

von Vest, S. | Eriksen, P. | de Groot, F. | +10

4

Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations : A Report of a Novel Mutation and Clinical Findings

enthalten in: Journal of clinical medicine | 2024

von Eid, A. | Eid, K. | Odom, J. | +2

5

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

enthalten in: Clinical, cosmetic and investigational dermatology | 2024

von Wang, X. | Ouyang, X. | Zhang, D. | +6

6

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

in: Clinical, Cosmetic and Investigational Dermatology | 2024

von Wang X | Ouyang X | Zhang D | +6

7

The Genetic Profile of Large B-Cell Lymphomas Presenting in the Ocular Adnexa

in: International Journal of Molecular Sciences | 2024

von Stine Dahl Vest | Patrick Rene Gerhard Eriksen | Fleur A. de Groot | +10

8

DNAJB11 Mutation in ADPKD Patients : Clinical Characteristics in a Monocentric Cohort

enthalten in: Genes | 2023

von Aiello, V. | Ciurli, F. | Conti, A. | +13

9

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome

enthalten in: Clinical endocrinology | 2023

von Ying, Q. | Ye, Z. | Zhang, W. | +6

10

The evolution of aging and lifespan

enthalten in: Trends in genetics : TIG | 2023

von Li, S. | Vazquez, J. | Sudmant, P.

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