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Page 1
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: shanmugham a. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Attitudes and practices among internists concerning genetic testing.
Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS. Klitzman R, et al. Among authors: shanmugham a. J Genet Couns. 2013 Feb;22(1):90-100. doi: 10.1007/s10897-012-9504-z. Epub 2012 May 15. J Genet Couns. 2013. PMID: 22585186 Free PMC article.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Zou F, et al. Among authors: shanmugham a. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. J Neurogenet. 2017. PMID: 28460589 Free PMC article.
Views of internists towards uses of PGD.
Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS. Klitzman R, et al. Among authors: shanmugham a. Reprod Biomed Online. 2013 Feb;26(2):142-7. doi: 10.1016/j.rbmo.2012.11.006. Epub 2012 Nov 21. Reprod Biomed Online. 2013. PMID: 23276655 Free PMC article.
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
Jobanputra V, Burke A, Kwame AY, Shanmugham A, Shirazi M, Brown S, Warburton PE, Levy B, Warburton D. Jobanputra V, et al. Among authors: shanmugham a. Am J Med Genet A. 2012 Jan;158A(1):103-8. doi: 10.1002/ajmg.a.34375. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105922 Free PMC article.
Comparison of Pre- and Posttreatment Airway Volume in Patients with Temporomandibular Joint Disorders Treated with Ultra-Low Frequency Transcutaneous Electrical Nerve Stimulation Using Cone Beam Computed Tomography.
Verghese RS, Jose R, Ramachandran A, Shanmugham AM, Nair PK, Kumar KS, Varma BR. Verghese RS, et al. Among authors: shanmugham am. Int Arch Otorhinolaryngol. 2023 Oct 23;27(4):e593-e601. doi: 10.1055/s-0042-1758207. eCollection 2023 Oct. Int Arch Otorhinolaryngol. 2023. PMID: 37876693 Free PMC article.
21 results