Suchergebnisse - "Burger, Pauline"

PubPharm (39)

1

Speech and language in DDX3X-neurodevelopmental disorder : A call for early augmentative and alternative communication intervention

enthalten in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2024

von Forbes, E. | Morison, L. | Lelik, F. | +8

2

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

enthalten in: Molecular genetics & genomic medicine | 2024

von Ruault, V. | Burger, P. | Gradels-Hauguel, J. | +84

3

Ocular manifestations in Koolen-de Vries syndrome : an international study

enthalten in: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | 2023

von Shalev, D. | Koolen, D. | de Vries, B. | +6

4

A burning question from the first international BPAN symposium : is restoration of autophagy a promising therapeutic strategy for BPAN?

enthalten in: Autophagy | 2023

von Mollereau, B. | Hayflick, S. | Escalante, R. | +11

5

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Bouman, A. | Bouwmeester, R. | van Vlimmeren, L. | +7

6

GenIDA : an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

enthalten in: Journal of neural transmission (Vienna, Austria : 1996) | 2023

von Burger, P. | Colin, F. | Strehle, A. | +11

7

Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Bouman, A. | Bouwmeester, R. | Vlimmeren, L. | +7

8

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

enthalten in: Journal of neural transmission | 2022

von Burger, P. | Colin, F. | Strehle, A. | +11

9

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders : the DYRK1A and the Wiedemann-Steiner syndromes

enthalten in: Clinical genetics | 2022

von Durand, B. | Schaefer, E. | Burger, P. | +5

10

The impact of lockdown on young people with genetic neurodevelopmental disabilities : a study with the international participatory database GenIDA

enthalten in: BMC psychiatry | 2022

von Coutelle, R. | Boedec, M. | Vermeulen, K. | +9