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Page 1
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664.
Int J Mol Sci. 2022.
PMID: 36430143
Free PMC article.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H.
Aerden M, et al. Among authors: maillard py.
Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7.
Eur J Hum Genet. 2023.
PMID: 36747006
Free PMC article.
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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.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M.
Maillard PY, et al.
Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13.
Epilepsia. 2022.
PMID: 35718920
Free PMC article.
Review.
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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C.
Tran Mau-Them F, et al. Among authors: maillard py.
Front Genet. 2023 Mar 23;14:1099995. doi: 10.3389/fgene.2023.1099995. eCollection 2023.
Front Genet. 2023.
PMID: 37035737
Free PMC article.
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A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.
M'Kacher R, Miguet M, Maillard PY, Colicchio B, Scheidecker S, Najar W, Arnoux M, Oudrhiri N, Borie C, Biehler M, Plesch A, Heidingsfelder L, Bennaceur-Griscelli A, Dieterlen A, Voisin P, Junker S, Carde P, Jeandidier E.
M'Kacher R, et al. Among authors: maillard py.
Genes (Basel). 2022 Sep 29;13(10):1762. doi: 10.3390/genes13101762.
Genes (Basel). 2022.
PMID: 36292646
Free PMC article.
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[Sequencing the human genome and society].
Maillard PY.
Maillard PY.
Praxis (Bern 1994). 2014 May 7;103(10):551-3. doi: 10.1024/1661-8157/a001654.
Praxis (Bern 1994). 2014.
PMID: 24800765
French, German.
No abstract available.
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[A partnership between doctors and the state: the "new deal Vadois". Interview by Michael Balavoine and Bertrand Kiefer].
Maillard PY, Repond PA.
Maillard PY, et al.
Rev Med Suisse. 2011 Jun 22;7(300):1373-5.
Rev Med Suisse. 2011.
PMID: 21815539
French.
No abstract available.
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