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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1984 1
1993 1
1994 1
1996 1
2001 1
2005 1
2006 1
2008 1
2012 2
2013 1
2014 1
2015 4
2016 1
2018 1
2019 1
2020 1
2023 1
2024 0

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18 results

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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fully defined. Here, we present 16 additional patients with predicted pathogenic heterozygous variants in including four individuals fr …
Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fu …
Gastrointestinal manifestations of systemic sclerosis.
Abu-Shakra M, Guillemin F, Lee P. Abu-Shakra M, et al. Semin Arthritis Rheum. 1994 Aug;24(1):29-39. doi: 10.1016/0049-0172(94)90097-3. Semin Arthritis Rheum. 1994. PMID: 7985035 Review.
Gastrointestinal involvement was not significantly correlated with gender, age at SSc diagnosis or disease type (limited or diffuse scleroderma). Upper GI symptoms develop early in the course of SSc and may not correlate with objective findings. Various investigations, tre …
Gastrointestinal involvement was not significantly correlated with gender, age at SSc diagnosis or disease type (limited or diffuse sclerode …
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
INTRODUCTION: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype-genotype correlation. ...At present, Face2Gene is useful to suggest PMM2-CDG. Regarding the …
INTRODUCTION: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity pr …
Botulinum Toxin Versus Dextrose Prolotherapy: Which is More Effective for Temporomandibular Joint Subluxation? A Randomized Clinical Trial.
Cömert Kiliç S, Kiliç N, Güngörmüş M. Cömert Kiliç S, et al. J Oral Maxillofac Surg. 2023 Apr;81(4):389-395. doi: 10.1016/j.joms.2022.12.023. Epub 2023 Jan 21. J Oral Maxillofac Surg. 2023. PMID: 36693543 Clinical Trial.
The subjects were treated randomly with one of two treatment techniques with equal numbers as follows: one-session BTX-A injection into lateral pterygoid muscles (BTX-A group) or three sessions of dextrose injections around TMJ (prolotherapy group). The predictor variable …
The subjects were treated randomly with one of two treatment techniques with equal numbers as follows: one-session BTX-A injection into late …
Reversible occlusion of donor vessel caused by mouth opening after superficial temporal artery-middle cerebral artery anastomosis in adult moyamoya patients.
Katsuta T, Abe H, Miki K, Inoue T. Katsuta T, et al. J Neurosurg. 2015 Sep;123(3):670-5. doi: 10.3171/2014.10.JNS141805. Epub 2015 Apr 24. J Neurosurg. 2015. PMID: 25909570
However, to avoid the "big bite ischemic phenomenon," the authors recommend securing a sufficient distance between the donor STA and the edge of the bone window and avoiding a redundant course of the donor STA within the muscle layer....
However, to avoid the "big bite ischemic phenomenon," the authors recommend securing a sufficient distance between the donor STA and the edg …
18 results