Suchergebnisse - "Hansen, Lars Kjærsgaard"

PubPharm (34)

1

CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology

enthalten in: European journal of human genetics : EJHG | 2023

von Oppermann, H. | Marcos-Grañeda, E. | Weiss, L. | +52

2

Erratum : Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

enthalten in: HGG advances | 2023

von Sobering, A. | Bryant, L. | Li, D. | +37

ErratumFor: HGG Adv. 2022 Mar 26;3(3):100102. - PMID 35469323

3

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

enthalten in: HGG advances | 2022

von Sobering, A. | Bryant, L. | Li, D. | +37

ErratumIn: HGG Adv. 2022 Dec 20;4(1):100168. - PMID 36583168

4

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Qi, C. | Feng, I. | Costa, A. | +23

5

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

enthalten in: Genome medicine | 2021

von Gillentine, M. | Wang, T. | Hoekzema, K. | +98

6

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

enthalten in: Genome medicine | 2021

von Gillentine, M. | Wang, T. | Hoekzema, K. | +95

7

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

enthalten in: European journal of medical genetics | 2020

von Christesen, H. | Christensen, L. | Löfgren, �. | +13

8

Neurologic phenotypes associated with COL4A1/2 mutations : Expanding the spectrum of disease

enthalten in: Neurology | 2018

von Zagaglia, S. | Selch, C. | Nisevic, J. | +46

ErratumIn: Neurology. 2020 Feb 18;94(7):332. - PMID 31980581

9

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

enthalten in: American journal of human genetics | 2017

von Martin, S. | Chamberlin, A. | Shinde, D. | +14

10

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism : A Multinational Cohort Study

enthalten in: Frontiers in endocrinology | 2017

von Helleskov, A. | Melikyan, M. | Globa, E. | +8