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2,719 articles with title/keywords/abstract containing Inherited disease

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Livedoid vasculiltis associated with a double heterozygous Factor V Leiden and prothrombin G20210A gene mutations

Authors: Khenifer, S.; Thomas, L.; Balme, B.; Dalle, S.

Source: Clinical & Experimental Dermatology, Volume 34, Number 8, December 2009 , pp. e811-e813(1)

Publisher: Blackwell Publishing

Epidermolysis bullosa pruriginosa in association with lichen planopilaris

Authors: Almaani, N.; Liu, L.; Perez, A.; Robson, A.; Mellerio, J. E.; McGrath, J. A.

Source: Clinical & Experimental Dermatology, Volume 34, Number 8, December 2009 , pp. e825-e828(1)

Publisher: Blackwell Publishing

Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene

Authors: Ding, Y. G.; Fang, H.; Lao, L. M.; Jiang, X. J.; Chen, H. C.

Source: Clinical & Experimental Dermatology, Volume 34, Number 8, December 2009 , pp. e968-e971(1)

Publisher: Blackwell Publishing

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

Authors: NORIS, P.; KLERSY, C.; ZECCA, M.; ARCAINI, L.; PECCI, A.; MELAZZINI, F.; TERULLA, V.; BOZZI, V.; AMBAGLIO, C.; PASSAMONTI, F.; LOCATELLI, F.; BALDUINI, C. L.

Source: Journal of Thrombosis and Haemostasis, Volume 7, Number 12, December 2009 , pp. 2131-2136(6)

Publisher: Blackwell Publishing

Biliary atresia: a new immunological insight into etiopathogenesis

Authors: Muraji, Toshihiro; Suskind, David L; Irie, Naoki

Source: Expert Review of Gastroenterology and Hepatology, Volume 3, Number 6, December 2009 , pp. 599-606(8)

Publisher: Expert Reviews

Content loaded within last 14 days Hereditary encephalomyelopathy and polyneuropathy in an Alaskan husky

Authors: Wakshlag, J. J.; deLahunta, A.

Source: The Journal of Small Animal Practice, Volume 50, Number 12, December 2009 , pp. 670-674(5)

Publisher: Blackwell Publishing

Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle

Authors: Buitkamp, J.; Kühn, C.; Semmer, J.; Götz, K.-U.

Source: Animal Genetics, Volume 40, Number 6, December 2009 , pp. 894-899(6)

Publisher: Blackwell Publishing

Allogeneic haemopoietic stem cell transplantation in children: what alternative donor should we choose when no matched sibling is available?

Authors: Hough, Rachael; Cooper, Nicola; Veys, Paul

Source: British Journal of Haematology, Volume 147, Number 5, December 2009 , pp. 593-613(21)

Publisher: Blackwell Publishing

Sarcomeric α-actinins and their role in human muscle disease

Authors: Houweling, Peter J; North, Kathryn N

Source: Future Neurology, Volume 4, Number 6, November 2009 , pp. 731-743(13)

Publisher: Future Medicine

Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1

Authors: Thornell, L.-E.; Lindstöm, M.; Renault, V.; Klein, A.; Mouly, V.; Ansved, T.; Butler-Browne, G.; Furling, D.

Source: Neuropathology & Applied Neurobiology, Volume 35, Number 6, November 2009 , pp. 603-613(11)

Publisher: Blackwell Publishing

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Authors: Finsterer, J.; Harbo, H. F.; Baets, J.; Van Broeckhoven, C.; Di Donato, S.; Fontaine, B.; De Jonghe, P.; Lossos, A.; Lynch, T.; Mariotti, C.; Schöls, L.; Spinazzola, A.; Szolnoki, Z.; Tabrizi, S. J.; Tallaksen, C. M. E.; Zeviani, M.; Burgunder, J.-M.; Gasser, T.

Source: European Journal of Neurology, Volume 16, Number 12, December 2009 , pp. 1255-1264(10)

Publisher: Blackwell Publishing

Genetics of inflammatory bowel disease: implications for disease pathogenesis and natural history

Authors: Lees, Charlie W; Satsangi, Jack

Source: Expert Review of Gastroenterology and Hepatology, Volume 3, Number 5, October 2009 , pp. 513-534(22)

Publisher: Expert Reviews

Absence of nigral degeneration in aged parkin/DJ-1/PINK1 triple knockout mice

Authors: Kitada, Tohru; Tong, Youren; Gautier, Clement A.; Shen, Jie

Source: Journal of Neurochemistry, Volume 111, Number 3, November 2009 , pp. 696-702(7)

Publisher: Blackwell Publishing

Turning REST/NRSF Dysfunction in Huntington's Disease into a Pharmaceutical Target

Authors: Rigamonti, Dorotea; Mutti, Cesare; Zuccato, Chiara; Cattaneo, Elena; Contini, Alessandro

Source: Current Pharmaceutical Design, Volume 15, Number 34, December 2009 , pp. 3958-3967(10)

Publisher: Bentham Science Publishers

Mesenchymal Stem Cells for Treatment and Prevention of Graft-Versus- Host Disease After Allogeneic Hematopoietic Cell Transplantation

Authors: Toubai, Tomomi; Paczesny, Sophie; Shono, Yusuke; Tanaka, Junji; Lowler, Kathleen P.; Malter, Chelsea T.; Kasai, Masaharu; Imamura, Masahiro

Source: Current Stem Cell Research & Therapy, Volume 4, Number 4, December 2009 , pp. 252-259(8)

Publisher: Bentham Science Publishers

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

Authors: Andresen, Per; Heimdal, Ketil; Aaberg, Kristin; Eklo, Kristin; Ariansen, Sarah; Silye, Alexandra; Fausa, Olav; Aabakken, Lars; Aretz, Stefan; Eide, Tor; Gedde-Dahl, Tobias

Source: Journal of Cancer Research and Clinical Oncology, Volume 135, Number 10, October 2009 , pp. 1463-1470(8)

Publisher: Springer

Gynaecological and obstetrical problems in women with different bleeding disorders

Authors: SIBONI, S. M.; SPREAFICO, M.; CALÒ, L.; MAINO, A.; SANTAGOSTINO, E.; FEDERICI, A. B.; PEYVANDI, F.

Source: Haemophilia, Volume 15, Number 6, November 2009 , pp. 1291-1299(9)

Publisher: Blackwell Publishing

Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd

Authors: Mellersh, Cathryn S.; McLaughlin, Bryan; Ahonen, Saija; Pettitt, Louise; Lohi, Hannes; Barnett, Keith C.

Source: Veterinary Ophthalmology, Volume 12, Number 6, November/December 2009 , pp. 372-378(7)

Publisher: Blackwell Publishing

Chromosome imbalances in syndromic hearing loss

Authors: Catelani, ALPM; Krepischi, ACV; Kim, CA; Kok, F; Otto, PA; Auricchio, MTBM; Mazzeu, JF; Uehara, DT; Costa, SS; Knijnenburg, J; Tabith, A; Vianna-Morgante, AM; Mingroni-Netto, RC; Rosenberg, C

Source: Clinical Genetics, Volume 76, Number 5, November 2009 , pp. 458-464(7)

Publisher: Blackwell Publishing

Free Content Growth Factor Coinjection Improves the Migration Potential of Monkey Myogenic Precursors Without Affecting Cell Transplantation Success

Authors: Lafreniere, Jean-François; Caron, Marie-Christine; Skuk, Daniel; Goulet, Marlyne; Cheikh, Anissa Rahma; Tremblay, Jacques P.

Source: Cell Transplantation, Volume 18, Number 7, 2009 , pp. 719-730(12)

Publisher: Cognizant Communication Corporation

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