E-LIB Suche - Ergebnisse für: Boot, Erik

1

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fe..:

Goldmuntz, Elizabeth ; Bassett, Anne S. ; Boot, Erik...
Prenatal Diagnosis. 44 (2024) 6-7 - p. 804-814 , 2024

Link: https://doi.org/10.1002/..

2

Dementia in Rare Genetic Neurodevelopmental Disorders: A Sy..:

Kwetsie, Hadassa ; van Schaijk, Malu ; Van Der Lee, Sven...
Neurology. 102 (2024) 11 - p. , 2024

Link: https://doi.org/10.1212/..

3

Navigating the outcome maze: a scoping review of outcomes a..:

Müller, Annelieke R. ; van Silfhout, Nadia Y. ; den Hollander, Bibiche...
Therapeutic Advances in Rare Disease. 5 (2024) - p. , 2024

Link: https://doi.org/10.1177/..

4

Approaches to studying the impact of 22q11.2 copy number va..:

Bassett, Anne S. ; McDonald-McGinn, Donna M. ; Boot, Erik..
The American Journal of Human Genetics. 110 (2023) 7 - p. 1216-1218 , 2023

Link: https://doi.org/10.1016/..

5

Psychiatric and neurological manifestations in adults with ..:

Korteling, Dorinde ; Musch, Jiska L. I. ; Zinkstok, Janneke R..
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 195 (2023) 2 - p. , 2023

Link: https://doi.org/10.1002/..

6

P112: Updated clinical practice guidelines for managing chi..:

Bassett, Anne ; Oskarsdottir, Solveig ; Boot, Erik.
Genetics in Medicine Open. 1 (2023) 1 - p. 100141 , 2023

Link: https://doi.org/10.1016/..

7

Updated clinical practice recommendations for managing adul..:

Boot, Erik ; Óskarsdóttir, Sólveig ; Loo, Joanne C.Y....
Genetics in Medicine. 25 (2023) 3 - p. 100344 , 2023

Link: https://doi.org/10.1016/..

8

Optometry in adults with microdeletion 22q11.2: The eye as ..:

von Scheibler, Emma N.M.M. ; Appaji, Abhishek ; Berendschot, Tos T.J.M....
Biomarkers in Neuropsychiatry. 9 (2023) - p. 100081 , 2023

Link: https://doi.org/10.1016/..

9

Updated clinical practice recommendations for managing chil..:

Óskarsdóttir, Sólveig ; Boot, Erik ; Crowley, Terrence Blaine...
Genetics in Medicine. 25 (2023) 3 - p. 100338 , 2023

Link: https://doi.org/10.1016/..

10

Prenatal Screening and Diagnostic Considerations for 22q11...:

Blagowidow, Natalie ; Nowakowska, Beata ; Schindewolf, Erica...
Genes. 14 (2023) 1 - p. 160 , 2023

Link: https://doi.org/10.3390/..

11

Intellectual and Behavioral Phenotypes of Smith–Magenis Syn..:

Linders, Cathelijne C. ; van Eeghen, Agnies M. ; Zinkstok, Janneke R...
Genes. 14 (2023) 8 - p. 1514 , 2023

Link: https://doi.org/10.3390/..

12

Hearing loss and history of otolaryngological conditions in..:

von Scheibler, Emma N. M. M. ; Widdershoven, Josine C. C. ; van Barneveld, Denise C. P. B. M....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..

13

Post-traumatic stress in adults with 22q11.2 deletion syndr..:

von Scheibler, Emma N. M. M. ; van Amelsvoort, Thérèse A. M. J. ; Vingerhoets, Claudia..
BJPsych Open. 8 (2022) 4 - p. , 2022

Link: https://doi.org/10.1192/..

14

Contributors:

, In: The Chromosome 22q11.2 Deletion Syndrome,

Bassett, Anne S. ; Van Batavia, Jason P. ; Boot, Erik... - p. xv-xvii , 2022

Link: https://doi.org/10.1016/..

15

Spectrum of movement disorders and motor abnormalities in a..:

Boot, Erik ; Marras, Connie ; Bassett, Anne S.
European Journal of Human Genetics. 30 (2022) 12 - p. 1314-1317 , 2022

Link: https://doi.org/10.1038/..