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1.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35718920
2.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Article
in English
| MEDLINE | ID: mdl-36430143
3.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36747006
4.
A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.
Genes (Basel)
; 13(10)2022 Sep 29.
Article
in English
| MEDLINE | ID: mdl-36292646
5.
[A partnership between doctors and the state: the "new deal Vadois". Interview by Michael Balavoine and Bertrand Kiefer]. / Un partenariat entre médecins et Etat: le "new deal" vaudois.
Rev Med Suisse
; 7(300): 1373-5, 2011 Jun 22.
Article
in French
| MEDLINE | ID: mdl-21815539
6.
[Sequencing the human genome and society]. / Sequenzierung des menschlichen Genoms und die Gesellschaft.
Praxis (Bern 1994)
; 103(10): 551-3, 2014 May 07.
Article
in French, German
| MEDLINE | ID: mdl-24800765
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