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Vaux syndrome相关文献:
[Lymphomas in immunocompromised patients].
Plasse F, Bonnin A, Labrousse J, Mottaz P, Carrère F, Augereau PF, Aucher P, Vignon G, Lellouche F.
Ann Biol Clin (Paris). 2020 Feb 1;78(1):7-16. doi: 10.1684/abc.2020.1521.
PMID:32108583
FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.
J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22.
PMID:28735298
IAP gene deletion and conditional knockout models.
Silke J, Vaux DL.
Semin Cell Dev Biol. 2015 Mar;39:97-105. doi: 10.1016/j.semcdb.2014.12.004. Epub 2014 Dec 26.
PMID:25545814
The genetic landscape of autism spectrum disorders.
Rosti RO, Sadek AA, Vaux KK, Gleeson JG.
Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1.
PMID:24116704
[Diagnostic workup in front of an adult monocytosis].
Labrousse J, Pasini S, Vignon G, Bonnin A, Mottaz P, Carrere F, Augereau PF, Aucher P, Lellouche F.
Ann Biol Clin (Paris). 2019 Oct 1;77(5):485-494. doi: 10.1684/abc.2019.1475.
PMID:31486402
[Diagnostic workup in front of an hypereosinophilia in 2020].
Bonnin A, Vignon G, Mottaz P, Labrousse J, Carrere F, Augereau PF, Aucher P, Lellouche F.
Ann Biol Clin (Paris). 2020 Aug 1;78(4):399-409. doi: 10.1684/abc.2020.1556.
PMID:32540797
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG.
Am J Med Genet A. 2016 Apr;170A(4):992-8. doi: 10.1002/ajmg.a.37533. Epub 2016 Jan 5.
PMID:27001912
[Diagnostic workup in front of an adult thrombocytosis].
Vignon G, Boscagly A, Labrousse J, Bonnin A, Hij A, Carrere F, Augereau PF, Aucher P, Lellouche F.
Ann Biol Clin (Paris). 2021 Oct 1;79(5):415-425. doi: 10.1684/abc.2021.1671.
PMID:34642137
Neonatal phenotype in Kabuki syndrome.
Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL.
Am J Med Genet A. 2005 Jan 30;132A(3):244-7. doi: 10.1002/ajmg.a.30336.
PMID:15690369
Developmental outcome in Kabuki syndrome.
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L.
Am J Med Genet A. 2005 Jan 30;132A(3):263-4. doi: 10.1002/ajmg.a.30338.
PMID:15523636
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