Suchergebnisse - "de Villemeur, Thierry Billette"

PubPharm (55)

1

Development and initial validation of a screening tool for visual ability/performance of people with polyhandicap

enthalten in: Annals of physical and rehabilitation medicine | 2024

von Rousseau, M. | Challe, G. | Charbonnier, S. | +10

2

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France : A qualitative study

enthalten in: Health expectations : an international journal of public participation in health care and health policy | 2023

von Aim, M. | Rousseau, M. | Hamouda, I. | +8

3

Development and initial validation of the quality of life questionnaire for persons with polyhandicap (PolyQoL)

enthalten in: Annals of physical and rehabilitation medicine | 2023

von Hamouda, I. | Rousseau, M. | Aim, M. | +5

4

The French EVAL-PLH cohort of persons with polyhandicap

enthalten in: Scientific reports | 2022

von Hamouda, I. | Rousseau, M. | Beltran Anzola, A. | +26

5

Further delineation of BCAP31-linked intellectual disability : description of 17 new families with LoF and missense variants

enthalten in: European journal of human genetics : EJHG | 2021

von Whalen, S. | Shaw, M. | Mignot, C. | +54

6

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum : contribution to further diagnostic delineation

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

von Heide, S. | Spentchian, M. | Valence, S. | +43

7

Callosal agenesis and congenital mirror movements : outcomes associated with DCC mutations

enthalten in: Developmental medicine and child neurology | 2020

von Spencer-Smith, M. | Knight, J. | Lacaze, E. | +34

CommentIn: Dev Med Child Neurol. 2020 Jun;62(6):669. - PMID 32157690

8

Polyhandicap and aging

enthalten in: Disability and health journal | 2019

von Rousseau, M. | de Villemeur, T. | Khaldi-Cherif, S. | +43

9

Correction : A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

enthalten in: PLoS genetics | 2018

von Gonçalves, S. | Patat, J. | Guida, M. | +22

ErratumFor: PLoS Genet. 2018 May 16;14(5):e1007386. - PMID 29768408

10

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease

enthalten in: Haematologica | 2018

von Lefebvre, T. | Reihani, N. | Daher, R. | +8

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