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Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Mol Genet Genomic Med. 2023 Sep;11(9):e2219. doi: 10.1002/mgg3.2219. Epub 2023 Jun 23.
Mol Genet Genomic Med. 2023.
PMID: 37353886
Free PMC article.
Review.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L.
Bourchany A, et al. Among authors: jaquette a.
Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12.
Eur J Med Genet. 2017.
PMID: 28807864
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.
Courcet JB, et al. Among authors: jaquette a.
J Pediatr. 2013 Sep;163(3):742-6. doi: 10.1016/j.jpeds.2013.02.032. Epub 2013 Mar 25.
J Pediatr. 2013.
PMID: 23535010
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