Search Results - "Medical genetics

Origin and Function of Monocytes in Inflammatory Bowel Disease by Liao X, Liu J, Guo X, Meng R, Zhang W, Zhou J, Xie X, Zhou H

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Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1 by Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia

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Increased diagnostic yield by reanalysis of data from a hearing loss gene panel by Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng

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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy by Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

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Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report by Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li

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DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy by Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

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A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case by Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh, Sima Mansoori Derakhshan

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Collecting sexual assault history and forensic evidence from adult women in the emergency department: a retrospective study by Pamela Tozzo, Elena Ponzano, Gloria Spigarolo, Patrizia Nespeca, Luciana Caenazzo

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 by Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

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The Siblings With Ischemic Stroke Study (SWISS) Protocol by Hardy John, Chukwudelunzu Felix E, Brott Thomas G, Brown Robert D, Meschia James F, Rich Stephen S

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Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death? by Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel, Silke Kauferstein

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Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook by Melluso A, Secondulfo F, Capolongo G, Capasso G, Zacchia M

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences by Haque Sayedul, Phadke Shubha R, Roy Akhilesh K, Wajid Muhammad, Girisha KM, Malik Sajid, Ahmad Wasim, Koch Manuela C, Grzeschik Karl-Heinz

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The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report by Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma, Haibo Chen

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An Open Access Database of Genome-wide Association Results by Johnson Andrew D, O'Donnell Christopher J

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Dentistry Case Simulator: Amelogenesis Imperfecta (Out of Print) by Jan Hu, James Simmer, Carole Anne Murdoch-Kinch, Christine Klausner, Amy Coplen, Michael Bleed, Lynn Johnson

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Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes by Wainstein Julio, Cohen Josef, Blech Ilana, Ovadia Ofer, Feder Jeanette, Harman-Boehm Ilana, Glaser Benjamin, Mishmar Dan

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Clinical Knowledge, Attitude, and Perceptions of Community Pharmacists Towards Pharmacogenomics - A Cross-Sectional Study from Saudi Arabia by Alrabiah Z, Syed W, Babelghaith SD, Al Arifi MN

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Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population by Matsumoto Takayuki, Hori Kazutoshi, Tomita Toshihiko, Tanaka Junji, Sakurai Jun, Nakajima Shigemi, Oshima Tadayuki, Toyoshima Fumihiko, Miwa Hiroto

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<it>CD209 </it>in inflammatory bowel disease: a case-control study in the Spanish population by Urcelay Elena, de la Concha Emilio G, López-Nevot Miguel A, Gómez Luis M, Taxonera Carlos, Gómez-García María, Mendoza Juan, Oliver Javier, Núñez Concepción, Martínez Alfonso, Martín Javier

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