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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. Gallione C, et al. Among authors: beis j. Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206. Am J Med Genet A. 2010. PMID: 20101697
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: beis j. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003. Am J Hum Genet. 2010. PMID: 20598275 Free PMC article.
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.
Creighton S, Almqvist EW, MacGregor D, Fernandez B, Hogg H, Beis J, Welch JP, Riddell C, Lokkesmoe R, Khalifa M, MacKenzie J, Sajoo A, Farrell S, Robert F, Shugar A, Summers A, Meschino W, Allingham-Hawkins D, Chiu T, Hunter A, Allanson J, Hare H, Schween J, Collins L, Sanders S, Greenberg C, Cardwell S, Lemire E, MacLeod P, Hayden MR. Creighton S, et al. Among authors: beis j. Clin Genet. 2003 Jun;63(6):462-75. doi: 10.1034/j.1399-0004.2003.00093.x. Clin Genet. 2003. PMID: 12786753
Severe retinopathy of prematurity associated with FZD4 mutations.
Ells A, Guernsey DL, Wallace K, Zheng B, Vincer M, Allen A, Ingram A, DaSilva O, Siebert L, Sheidow T, Beis J, Robitaille JM. Ells A, et al. Among authors: beis j. Ophthalmic Genet. 2010 Mar;31(1):37-43. doi: 10.3109/13816810903479834. Ophthalmic Genet. 2010. PMID: 20141357
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: beis j. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Innovative Therapy Combining Neck Muscle Vibration and Transcranial Direct Current Stimulation in Association with Conventional Rehabilitation in Left Unilateral Spatial Neglect Patients: HEMISTIM Protocol for a Randomized Controlled Trial.
Millot S, Beis JM, Pierret J, Badin M, Sabau V, Bensoussan L, Paysant J, Ceyte H. Millot S, et al. Among authors: beis jm. Brain Sci. 2023 Apr 18;13(4):678. doi: 10.3390/brainsci13040678. Brain Sci. 2023. PMID: 37190643 Free PMC article.
57 results