Search Results - "genetic testing"

Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention by Christina Engel Hoei-Hansen, Lene Weber, Mette Johansen, Rebecca Fabricius, Jonas Kjeldbjerg Hansen, Anne-Cathrine F. Viuff, Gitte Rønde, Gitte Holst Hahn, Elsebet Østergaard, Morten Duno, Vibeke Andrée Larsen, Camilla Gøbel Madsen, Katrine Røhder, Ann-Kristin Gunnes Elvrum, Britt Laugesen, Melanie Ganz, Kathrine Skak Madsen, Maria Willerslev-Olsen, Nanette Mol Debes, Jan Christensen, Robin Christensen, Gija Rackauskaite

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Thyroid cancer in a patient with Lynch syndrome – case report and literature review by Fazekas-Lavu M, Parker A, Spigelman AD, Scott RJ, Epstein RJ, Jensen M, Samaras K

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Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman by He G, Wang X, Li B, Wang L, Zhang J, Shi Y, Zhu W, Shi M

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Kidney Measurement and Glomerular Filtration Rate Evolution in Children with Polycystic Kidney Disease by Ramona Stroescu, Mihai Gafencu, Ruxandra Maria Steflea, Flavia Chisavu

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The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China by Xie Y, Xu XL, Wei WB

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A Rare Case of Acute Infectious Purpura Fulminans Caused by Klebsiella Pneumoniae and Human Herpesvirus Type 5 by Li XL, Luan CY, Fan YJ, Lin XY, Jiang D, Su MX, Wang G, Yang X

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Risk of Subsequent Primary Cancers Among Adult-Onset 5-Year Cancer Survivors in South Korea: Retrospective Cohort Study by Yoon Young Choi, Myeongjee Lee, Eun Hwa Kim, Jae Eun Lee, Inkyung Jung, Jae-Ho Cheong

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Recién nacido sano después de diagnóstico genético preimplantatorio en una madre con síndrome de Turner mosaico. Reporte de caso y revisión de la literatura by Walter Osorio-Ramírez, Juan Luis Giraldo-Moreno, Diana Patricia Gómez-Cortés, David Olive, John Fidel Cano-Franco, Sergio Tamayo-Hussein

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Prediction of the uncontrolled course of autoimmune type 1 diabetes in children by A.E. Abaturov, A.A. Nikulina, L.L. Petrenko, V.A. Yenhovatova, S.V. Turova, I.М. Makogon

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Real clinical practice of infertility treatment in Russia: a collective opinion of 425 reproductologists by N. V. Bashmakova, E. N. Novoselova, T. A. Nazarenko, M. M. Ovchinnikova, Yu. A. Fetisova, E. V. Gergert, M. A. Ganikhina, N. G. Valiullina, E. O. Golovina, M. R. Shcherban, A. S. Semikhin, M. A. Polzikov, D. V. Blinov

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Malignant tumors in tuberous sclerosis complex: a case report and review of the literature by Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen, James C. Padussis

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Age-related increase in live-birth rates of first frozen thaw embryo versus first fresh transfer in initial assisted reproductive technology cycles without PGT by Sarah F Wang, David B Seifer

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Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease by Prince BT, Thielen BK, Williams KW, Kellner ES, Arnold DE, Cosme-Blanco W, Redmond MT, Hartog NL, Chong HJ, Holland SM

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Low total cholesterol predicts early death in children with hemophagocytic lymphohistiocytosis by Li Xiao, Ximing Xu, Zhiling Zhang, Ying Dou, Xianmin Guan, Yuxia Guo, Jie Yu

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Association of Gene Variants of Plasmic (<i>FGB</i> -455 G>A (rs1800790), <i>F2</i> 20210 G>A (rs1799963), <i>F5</i> 1691 G>A (rs6025), <i>F7</i> 10976 G>A (rs6046), <i>F13</i> G>T... by Olesia A. Filippova, Irina V. Vakhlova, Nikolay N. Kuznetsov, Tatiana B. Abolina, Grigory A. Tsaur

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Toxic Epidermal Necrolysis and Stevens - Johnson Syndrome Following Sintilimab Administration in a Non-Small Cell Lung Cancer Patient: A Case Report by Jiang Z, Chen X, Sun Z, Shen X, Huang Y, Liu J

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The effect of rs776746 polymorphism in the <i>CYP3A5</i> gene on heart rate when using bisoprolol in patients with acute coronary syndrome by V. A. Shumkov, K. A. Zagorodnikova, S. A. Boldueva, A. A. Murzina

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Cancer awareness, diagnosis and treatment needs in Mizoram, India: evidence from 18 years trends (2003-2020)Research in context by Eric Zomawia, Zothan Zami, Andrew Vanlallawma, Nachimuthu Senthil Kumar, John Zothanzama, Lalchhanhimi Tlau, Lalchhandama Chhakchhuak, Lalawmpuii Pachuau, Jeremy L. Pautu, Evelyn V.L. Hmangaihzuali

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Therapy of chronic herpesvirus infection in frequently ill children. Possible causes of inefficiency by A.S. Levina, I.V. Babachenko, N.V. Skripchenko, T.A. Chebotareva, O.I. Demina

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Impact of Implementing CYP2C19 Genotype-Guided Antiplatelet Therapy on P2Y12 Inhibitor Selection and Clinical Outcomes in Acute Coronary Syndrome Patients After Percutaneous Corona... by Yi Zhang, Xiu-Jin Shi, Wen-Xing Peng, Jia-Lun Han, Bai-Di Lin, Ru Zhang, Yun-Nan Zhang, Jia-Lin Yan, Juan-Juan Wei, Yi-Fan Wang, Su-Wei Chen, Nan Nan, Zhen-Wei Fang, Yong Zeng, Yang Lin

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