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1. Genomic structural variants
: methods and protocols
by Feuk, Lars
2012, Methods in molecular biology, ISBN 1617795062, Volume 838., xi, 386
Genetic disorders
Book
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2. Migraine
by Dodick, David and Silberstein, Stephen D., author and Davidoff, Robert A., 1934
2016, 3rd edition., Contemporary neurology series, ISBN 0199793611, Volume 91, x, 306
Migraine Disorders | Migraine
Book
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3. Mechanism and management of headache
by Lance, James W. (James Waldo) and Goadsby, Peter J
2005, 7th ed., ISBN 9780750675307, xx, 392
Tension headache | Headache | Migraine
Book
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4. Full Text The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1
by Hayashida, Arisa and Li, Yuanzhe and Yoshino, Hiroyo and Daida, Kensuke and Ikeda, Aya and Ogaki, Kotaro and Fuse, Atsuhito and Mori, Akio and Takanashi, Masashi and Nakahara, Toshiki and Yoritaka, Asako and Tomizawa, Yuji and Furukawa, Yoshiaki and Kanai, Kazuaki and Nakayama, Yoshiaki and Ito, Hidefumi and Ogino, Mieko and Hattori, Yuko and Hattori, Tatsuya and Ichinose, Yuta and Takiyama, Yoshihisa and Saito, Tsukasa and Kimura, Takashi and Aizawa, Hitoshi and Shoji, Hiroshi and Mizuno, Yuri and Matsushita, Takuya and Sato, Mitsuto and Sekijima, Yoshiki and Morita, Masayo and Iwasaki, Akio and Kusaka, Hirofumi and Tada, Mikiko and Tanaka, Fumiaki and Sakiyama, Yusuke and Fujimoto, Takeshi and Nagara, Yuko and Kashihara, Kenichi and Todo, Hiroyuki and Nakao, Kouichi and Tsuruta, Kazuhito and Yoshikawa, Masaaki and Hara, Hideo and Yokote, Hiroaki and Murase, Nagako and Nakamagoe, Kiyotaka and Tamaoka, Akira and Takamiya, Motonori and Morimoto, Nobutoshi and Nokura, Kazuya and Kako, Tetsuharu and Funayama, Manabu and Nishioka, Kenya and Hattori, Nobutaka
Neurobiology of aging, ISSN 0197-4580, 01/2021, Volume 97, pp. 146.e1 - 146.e13
Heterozygous variants | PINK1 | Parkinson's disease | Digenic variants | Index Medicus
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5. Full Text Detection of genomic structural variants from next-generation sequencing data
by Tattini, Lorenzo and D'Aurizio, Romina and Magi, Alberto
Frontiers in bioengineering and biotechnology, ISSN 2296-4185, 2015, Volume 3, pp. 92 - 92
Structural variants | Whole-genome sequencing | Amplicon sequencing | Whole-exome sequencing | Statistical methods | Next generation sequencing | Copy number variants | Science & Technology - Other Topics | Multidisciplinary Sciences | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | copy number variants | next generation sequencing | statistical methods
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6. Full Text Role of Androgen Receptor Variants in Prostate Cancer: Report from the 2017 Mission Androgen Receptor Variants Meeting
by Luo, Jun and Attard, Gerhardt and Balk, Steven P and Bevan, Charlotte and Burnstein, Kerry and Cato, Laura and Cherkasov, Artem and De Bono, Johann S and Dong, Yan and Gao, Allen C and Gleave, Martin and Heemers, Hannelore and Kanayama, Mayuko and Kittler, Ralf and Lang, Joshua M and Lee, Richard J and Logothetis, Christopher J and Matusik, Robert and Plymate, Stephen and Sawyers, Charles L and Selth, Luke A and Soule, Howard and Tilley, Wayne and Weigel, Nancy L and Zoubeidi, Amina and Dehm, Scott M and Raj, Ganesh V
European urology, ISSN 0302-2838, 05/2018, Volume 73, Issue 5, pp. 715 - 723
Castration-resistant prostate cancer | Enzalutamide | Androgen receptor variants | Androgen receptor variant 7 | Abiraterone | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Congresses as Topic | Follow-Up Studies | Phenylthiohydantoin - therapeutic use | Risk Assessment | Humans | Middle Aged | Androstenes - therapeutic use | Male | Treatment Outcome | Prostatic Neoplasms, Castration-Resistant - drug therapy | Prostatic Neoplasms, Castration-Resistant - metabolism | Phenylthiohydantoin - analogs & derivatives | Biomarkers, Tumor - blood | Disease-Free Survival | Survival Analysis | Androgen Antagonists - therapeutic use | Aged | Prostatic Neoplasms, Castration-Resistant - mortality | Receptors, Androgen - blood | Prostate cancer | Index Medicus
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7. Full Text Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
by Richards, Sue and Aziz, Nazneen and Bale, Sherri and Bick, David and Das, Soma and Gastier-Foster, Julie and Grody, Wayne W and Hegde, Madhuri and Lyon, Elaine and Spector, Elaine and Voelkerding, Karl and Rehm, Heidi L and ACMG Lab Quality Assurance Comm and ACMG Laboratory Quality Assurance Committee and on behalf of the ACMG Laboratory Quality Assurance Committee
Genetics in medicine, ISSN 1098-3600, 05/2015, Volume 17, Issue 5, pp. 405 - 424
variant reporting | sequence variant terminology | ACMG laboratory guideline | interpretation | clinical genetic testing | reporting | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Genetic Testing - standards | Gene Frequency | Humans | Sequence Analysis, DNA - standards | Mutation | Odds Ratio | Case-Control Studies | Index Medicus | sequence variation | variant terminology
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8. Full Text Novel childhood asthma genes interact with in utero and early-life tobacco smoke exposure
by Scholtens, Salome and Postma, Dirkje S and Moffatt, Miriam F and Panasevich, Sviatlana and Granell, Raquel and Henderson, A. John and Melen, Erik and Nyberg, Freik and Pershagen, Goeran and Jarvis, Deborah and Ramasamy, Adaikalavan and Wjst, Matthias and Svanes, Cecilie and Bouzigon, Emmanuelle and Demenais, Florence and Kauffmann, Francine and Siroux, Valerie and von Mutius, Erika and Ege, Markus Johannes and Braun-Fahrlaender, Charlotte and Genuneit, Jon and Brunekreef, Bert and Smit, Henriette A and Wijga, Alet H and Kerkhof, Marjan and Curjuric, Ivan and Imboden, Medea and Thun, Gian A and Probst-Hensch, Nicole and Freidin, Maxim B and Bragina, Elena Iu and Deev, I. A and Puzyrev, V. P and Daley, Denise and Park, Julie and Becker, Allan and Chan-Yeung, Moira and Kozyrskyj, Anita L and Pare, Peter and Marenholz, Ingo and Lau, Susanne and Keil, Thomas and Lee, Young-Ae and Kabesch, Michael and Wijmenga, Cisca and Franke, Lude and Nolte, Ilja M and Vonk, Judith and Kumar, Ashish and Farrall, Martin
Journal of allergy and clinical immunology, ISSN 0091-6749, 03/2014, Volume 133, Issue 3, p. 885
PARKIN | VARIANTS
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9. Full Text Statistical variations in predicted martensite variant volume fractions in superelastically deformed NiTi modeled using habit plane variants versus correspondence variants
by Sridhar, Shivram Kashyap and Stebner, Aaron P and Rollett, Anthony D
International journal of solids and structures, ISSN 0020-7683, 04/2020
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10. Full Text CoVaCS: A consensus variant calling system
by Chiara, Matteo and Gioiosa, Silvia and Chillemi, Giovanni and D'Antonio, Mattia and Flati, Tiziano and Picardi, Ernesto and Zambelli, Federico and Horner, David Stephen and Pesole, Graziano and Castrignanò, Tiziana
BMC genomics, ISSN 1471-2164, 02/2018, Volume 19, Issue 1, pp. 120 - 120
Variant prioritization | Consensus method | Graphical user interface | Variant annotation | Workflow | Web server | Variant calling | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Usage | Genetic variation | Physiological aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Genomes | Analysis | Genomics | Index Medicus
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11. Full Text HBeAg negative variants and their role in the natural history of chronic hepatitis B virus infection
by Alexra Alexopoulou Peter Karayiannis
World journal of gastroenterology : WJG, ISSN 1007-9327, 2014, Volume 20, Issue 24, pp. 7644 - 7652
codon | variants,basal | core | Precore | promoter | stop | Basal core promoter variants | Hepatitis B e antigen negative chronic hepatitis B | Precore stop codon variants | Re-activation | Hepatitis B virus-DNA replication | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Hepatitis B e Antigens - immunology | Hepatitis B virus - growth & development | Hepatitis B, Chronic - transmission | Prognosis | Hepatitis B virus - pathogenicity | Hepatitis B, Chronic - epidemiology | Humans | Genotype | Hepatitis B, Chronic - diagnosis | Disease Progression | Hepatitis B, Chronic - virology | Phenotype | Hepatitis B e Antigens - genetics | Liver Cirrhosis - virology | Virus Replication | Hepatitis B virus - genetics | Mutation | Hepatitis B virus - immunology | Index Medicus | Topic Highlight | hepatitis B e antigen negative chronic hepatitis B | Precore stop codon variants, basal core promoter variants
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