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/vufind/Search/Results?lookfor=%22Bouman%2C+Arianne%22&type=Person&sort=year
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PubPharm (11)
1
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Bouman, A.
|
Geelen, J.
|
Kummeling, J.
| +4
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2
Expanding the phenotype of Kleefstra syndrome : speech, language and cognition in 103 individuals
enthalten in:
Journal of medical genetics
| 2024
von
Morison, L.
|
Kennis, M.
|
Rots, D.
| +14
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3
Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Bouman, A.
|
Geelen, J.
|
Kummeling, J.
| +4
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4
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome : a possible epigenetic link
enthalten in:
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
| 2023
von
Vasireddi, S.
|
Draksler, T.
|
Bouman, A.
| +11
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5
The role of the gut microbiota in patients with Kleefstra syndrome
enthalten in:
bioRxiv.org
| 2023
von
Bloemendaal, M.
|
Vlaming, P.
|
de Boer, A.
| +4
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6
The role of the gut microbiota in patients with Kleefstra syndrome
enthalten in:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
| 2023
von
Bloemendaal, M.
|
Vlaming, P.
|
de Boer, A.
| +4
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7
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
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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 (Vienna, Austria : 1996)
| 2023
von
Burger, P.
|
Colin, F.
|
Strehle, A.
| +11
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9
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
Wird geladen...
10
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
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American Journal of Medical Genetics Part C: Se...
2
American journal of medical genetics. Part A
1
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1
Europace : European pacing, arrhythmias, and ca...
1
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bioRxiv.org
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Thema
7
Journal Article
3
Kleefstra syndrome
3
Research Support, Non-U.S. Gov't
2
Cohorts
2
Comorbidities
2
Intellectual disability
2
Participative study
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2
neurodevelopmental disorders
1
16 S rRNA amplicon sequencing
1
17q21.31
1
570
1
9q34.3
1
Atrial fibrillation
1
Biology
1
Congenital/structural heart disease
1
EC 2.1.1.43
1
EEG
1
EHMT1
1
Epigenetic mutation
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Erscheinungszeitraum
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2024
6
2023
2
2022
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