Search Results - "Medical genetics"

Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis by Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong

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Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

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Potential action of cardamom (Elettaria cardamomum) against triple-negative breast cancer by Akash Samanta, Kiran Dobhal, Alka Singh, Shalu Verma, Vikash Jakhmola

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Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment by Imen CHATTI, Jean-Baptiste WOILLARD, Amira MILI, Isabelle CREVEAUX, Ilhem BEN CHARFEDDINE, Jihène FEKI, Sarah LANGLAIS, Leila BEN FATMA, Ali SAAD, Moez GRIBAA, Frédéric LIBERT

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Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes by Cai M, Huang H, Su L, Wu X, Xie X, Xu L, Lin N

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A Review of the Risk Factors Associated with Endometrial Hyperplasia During Perimenopause by Wang L, Wei W, Cai M

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Drug Disposition and Pharmacotherapy in Neonatal ECMO: From Fragmented Data to Integrated Knowledge by Genny Raffaeli, Genny Raffaeli, Pavla Pokorna, Pavla Pokorna, Pavla Pokorna, Karel Allegaert, Karel Allegaert, Fabio Mosca, Fabio Mosca, Giacomo Cavallaro, Enno D. Wildschut, Dick Tibboel

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Detecting copy number variation in next generation sequencing data from diagnostic gene panels by Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs, Wenche Sjursen

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GENETIC EPILEPTIC AND DEVELOPMENTAL ENCEPHALOPATHIES OF THE EARLY AGE: FROM SYMPTOMS GENETIC TESTING TO DIAGNOSIS by Л. Кирилова, О. Юзва, О. Мірошников, Н. Бондаренко, О. Берегела

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WILLIAMS-BEUREN SYNDROME AND COMBINED PATHOLOGY IN MONOCHORIAL TWINS (LITERATURE REVIEW AND CLINICAL CASE) by І. Ластівка, В. Анцупова, А. Бабінцева, О. Юрків, Л. Шейко, Л. Брішевац

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Huntington's chorea in a child. the first description of the disease in ukraine. proper observation by T. Stetsenko, O. Savchenko, N. Salan, I. Holovatyuk

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Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a nov... by Reichert Jennifer G, Nakamine Alisa, Cohen Ninette, Goldsmith Juliet E, Edelmann Lisa, Cai Guiqing, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D

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Respuesta autoinmune en pacientes con enfermedades genéticas y desregulación del sistema inmune Autoimmune response in patients with genetic diseases and immune system deregulati... by Bárbara Torres Rives, Goitybell Martínez Téllez, Araceli Lantigua Cruz, Suchiquil Rangel Velázquez, Juana Duany Sánchez, Vicky Sánchez Rodríguez, Lilia Caridad Marín Padrón

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Experts’ Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective by Alfadhel M, Al Sannaa N, Sunbul R, Al-Khawaja H, Askandarani S, Alanzi T, Elawad M, Fourtounas K

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High rate of mutations in the BRCA1, BRCA2, CHEK2, NBN, and BLM genes in Russian ovarian cancer patients by Ye. I. Bateneva, M. G. Filippova, A. S. Tyulyandina, A. A. Meshcheryakov, K. I. Zhordania, A. N. Gritsai, V. V. Kadochnikova, D. D. Abramov, A. A. Ragimov, D. Yu. Trofimov, L. N. Lyubchenko

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