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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14.
Clin Genet. 2023.
PMID: 37580112
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L.
Garde A, et al. Among authors: van kien pk.
Clin Genet. 2021 May;99(5):650-661. doi: 10.1111/cge.13918. Epub 2021 Jan 20.
Clin Genet. 2021.
PMID: 33415748
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
Denommé-Pichon AS, et al.
Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20.
Genet Med. 2023.
PMID: 36681873
Free article.
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A new lamin a mutation associated with acrogeria syndrome.
Hadj-Rabia S, Mashiah J, Roll P, Boyer A, Bourgeois P, Van Kien PK, Lévy N, De Sandre-Giovannoli A, Bodemer C, Navarro C.
Hadj-Rabia S, et al. Among authors: van kien pk.
J Invest Dermatol. 2014 Aug;134(8):2274-2277. doi: 10.1038/jid.2014.158. Epub 2014 Apr 1.
J Invest Dermatol. 2014.
PMID: 24687084
Free article.
No abstract available.
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Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
Edouard T, Picot MC, Bajanca F, Huguet H, Guitarte A, Langeois M, Chesneau B, Van Kien PK, Garrigue E, Dulac Y, Amedro P.
Edouard T, et al. Among authors: van kien pk.
Orphanet J Rare Dis. 2024 Apr 30;19(1):180. doi: 10.1186/s13023-024-03191-0.
Orphanet J Rare Dis. 2024.
PMID: 38685042
Free PMC article.
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