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Impact of high-volume, intermediate-volume and low-volume bowel preparation on colonoscopy quality and patient satisfaction: An observational study. [electronic resource] by
- Waldmann, E
- Penz, D
- Majcher, B
- Zagata, J
- Šinkovec, H
- Heinze, G
- Dokladanska, A
- Szymanska, A
- Trauner, M
- Ferlitsch, A
- Ferlitsch, M
Producer: 20200416
In:
United European gastroenterology journal vol. 7
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91.
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Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. [electronic resource] by
- Bunge, S
- Kleijer, W J
- Tylki-Szymanska, A
- Steglich, C
- Beck, M
- Tomatsu, S
- Fukuda, S
- Poorthuis, B J
- Czartoryska, B
- Orii, T
- Gal, A
Producer: 19971029
In:
Human mutation vol. 10
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93.
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Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. [electronic resource] by
- Lukong, K E
- Elsliger, M A
- Chang, Y
- Richard, C
- Thomas, G
- Carey, W
- Tylki-Szymanska, A
- Czartoryska, B
- Buchholz, T
- Criado, G R
- Palmeri, S
- Pshezhetsky, A V
Producer: 20000623
In:
Human molecular genetics vol. 9
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95.
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CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. [electronic resource] by
- Szymanska-Pasternak, J
- Szymanska, A
- Medrek, K
- Imyanitov, E N
- Cybulski, C
- Gorski, B
- Magnowski, P
- Dziuba, I
- Gugala, K
- Debniak, B
- Gozdz, S
- Sokolenko, A P
- Krylova, N Y
- Lobeiko, O S
- Narod, S A
- Lubinski, J
Producer: 20061211
In:
Gynecologic oncology vol. 102
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96.
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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. [electronic resource] by
- Cox, T M
- Aerts, J M F G
- Belmatoug, N
- Cappellini, M D
- vom Dahl, S
- Goldblatt, J
- Grabowski, G A
- Hollak, C E M
- Hwu, P
- Maas, M
- Martins, A M
- Mistry, P K
- Pastores, G M
- Tylki-Szymanska, A
- Yee, J
- Weinreb, N
Producer: 20080909
In:
Journal of inherited metabolic disease vol. 31
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97.
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Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. [electronic resource] by
- Rauschka, H
- Colsch, B
- Baumann, N
- Wevers, R
- Schmidbauer, M
- Krammer, M
- Turpin, J-C
- Lefevre, M
- Olivier, C
- Tardieu, S
- Krivit, W
- Moser, H
- Moser, A
- Gieselmann, V
- Zalc, B
- Cox, T
- Reuner, U
- Tylki-Szymanska, A
- Aboul-Enein, F
- LeGuern, E
- Bernheimer, H
- Berger, J
Producer: 20060926
In:
Neurology vol. 67
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98.
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CHEK2 is a multiorgan cancer susceptibility gene. [electronic resource] by
- Cybulski, C
- Górski, B
- Huzarski, T
- Masojć, B
- Mierzejewski, M
- Debniak, T
- Teodorczyk, U
- Byrski, T
- Gronwald, J
- Matyjasik, J
- Zlowocka, E
- Lenner, M
- Grabowska, E
- Nej, K
- Castaneda, J
- Medrek, K
- Szymańska, A
- Szymańska, J
- Kurzawski, G
- Suchy, J
- Oszurek, O
- Witek, A
- Narod, S A
- Lubiński, J
Producer: 20050204
In:
American journal of human genetics vol. 75
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99.
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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. [electronic resource] by
- Borgwardt, L
- Dali, C I
- Fogh, J
- Månsson, J E
- Olsen, K J
- Beck, H C
- Nielsen, K G
- Nielsen, L H
- Olsen, S O E
- Riise Stensland, H M F
- Nilssen, O
- Wibrand, F
- Thuesen, A M
- Pearl, T
- Haugsted, U
- Saftig, P
- Blanz, J
- Jones, S A
- Tylki-Szymanska, A
- Guffon-Fouiloux, N
- Beck, M
- Lund, A M
Producer: 20140715
In:
Journal of inherited metabolic disease vol. 36
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100.
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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. [electronic resource] by
- Biegstraaten, M
- Cox, T M
- Belmatoug, N
- Berger, M G
- Collin-Histed, T
- Vom Dahl, S
- Di Rocco, M
- Fraga, C
- Giona, F
- Giraldo, P
- Hasanhodzic, M
- Hughes, D A
- Iversen, P O
- Kiewiet, A I
- Lukina, E
- Machaczka, M
- Marinakis, T
- Mengel, E
- Pastores, G M
- Plöckinger, U
- Rosenbaum, H
- Serratrice, C
- Symeonidis, A
- Szer, J
- Timmerman, J
- Tylki-Szymańska, A
- Weisz Hubshman, M
- Zafeiriou, D I
- Zimran, A
- Hollak, C E M
Producer: 20180716
In:
Blood cells, molecules & diseases vol. 68
Availability: No items available.
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