Suchergebnisse - "Siu, Victoria M"

PubPharm (46)

1

Clinical Reasoning : A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes

enthalten in: Neurology | 2024

von Lail, G. | Siu, V. | Leung, A.

2

Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model

enthalten in: Human molecular genetics | 2023

von Qiu, Y. | Kenana, R. | Beharry, A. | +5

3

Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes : A Case Report

enthalten in: Neuropediatrics | 2022

von Brar, J. | Verma, R. | Al-Omari, M. | +4

4

Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome

enthalten in: American journal of medical genetics. Part A | 2021

von Postma, J. | Altamirano-Diaz, L. | Rupar, C. | +1

5

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Chowdhury, F. | Wang, L. | Al-Raqad, M. | +41

6

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Brunet, T. | McWalter, K. | Mayerhanser, K. | +58

7

Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2021

von Postma, J. | Altamirano‐Diaz, L. | Rupar, C. | +1

8

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Castilla-Vallmanya, L. | Selmer, K. | Dimartino, C. | +98

9

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

enthalten in: American journal of human genetics | 2020

von Szot, J. | Campagnolo, C. | Cao, Y. | +13

10

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

enthalten in: American journal of medical genetics. Part A | 2018

von Zarate, Y. | Smith-Hicks, C. | Greene, C. | +55

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