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	581.	Genome sequencing in a case of Niemann-Pick type C. [electronic resource] by Dougherty, Max Lazar, John Klein, Jason C Diaz, Karina Gobillot, Theodore Grunblatt, Eli Hasle, Nicholas Lawrence, Daniel Maurano, Megan Nelson, Maria Olson, Gregory Srivatsan, Sanjay Shendure, Jay Keene, C Dirk Bird, Thomas Horwitz, Marshall S Marshall, Desiree A Producer: 20171117 In: Cold Spring Harbor molecular case studies vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	582.	Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. [electronic resource] by Schlabe, Stefan Schwarze-Zander, Carolynne Lohse, Peter Rockstroh, Jürgen Kurt Producer: 20170512 In: BMJ case reports vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	583.	Diagnosis of extraskeletal myxoid chondrosarcoma in the thigh using EWSR1-NR4A3 gene fusion: a case report. [electronic resource] by Kobayashi, Hiroki Kikuta, Kazutaka Sekita, Tetsuya Susa, Michiro Nishimoto, Kazumasa Sasaki, Aya Kameyama, Kaori Sugita, Shintaro Hasegawa, Tadashi Nakamura, Masaya Matsumoto, Morio Morioka, Hideo Producer: 20170512 In: Journal of medical case reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	584.	Leptospirosis-Associated Severe Pulmonary Hemorrhagic Syndrome with Lower Back Pain as an Initial Symptom. [electronic resource] by Søndergaard, Mads Madsen Tursunovic, Amela Thye-Rønn, Peter Bang, Jacob Christian Hansen, Inger Marie Jensen Producer: 20170223 In: The American journal of case reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	585.	Pathogenic Variant in [electronic resource] by Conboy, Erin Vairo, Filippo Waggoner, Darrel Ober, Carole Das, Soma Dhamija, Radhika Klee, Eric W Pichurin, Pavel Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	586.	Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an [electronic resource] by Parachoniak, Christine A Rankin, Andrew Gaffney, Bernadette Hartmaier, Ryan Spritz, Dan Erlich, Rachel L Miller, Vincent A Morosini, Deborah Stephens, Phil Ross, Jeffrey S Keech, John Chmielecki, Juliann Producer: 20170922 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	587.	A Novel Variant t(1;22) Translocation - ins(22;1)(q13;p13p31) - in a Child with Acute Megakaryoblastic Leukemia. [electronic resource] by Margolskee, Elizabeth Saab, Jad Geyer, Julia T Aledo, Alexander Mathew, Susan Producer: 20171201 In: The American journal of case reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	588.	Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing [electronic resource] by Naud, Marie-Emmanuelle Tosca, Lucie Martinovic, Jelena Saada, Julien Métay, Corinne Drévillon, Loïc Benoit, Virginie Brisset, Sophie Tachdjian, Gérard Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	589.	Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. [electronic resource] by Aghajan, Yasmin Yoon, Janet M Crawford, John Ross Producer: 20180123 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	590.	Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). [electronic resource] by Swaika, Abhisek Boczek, Nicole J Sood, Neha Guthrie, Kimberly Klee, Eric W Agrawal, Ankit Dimberg, Elliot L Ailawadhi, Sikander Producer: 20160519 In: Case reports in genetics vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	591.	Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. [electronic resource] by Anusic, Sandra Clemens, Robert Karl Josef Meier, Thomas Oleg Amann-Vesti, Beatrice Ruth Producer: 20170206 In: BMJ case reports vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	592.	Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. [electronic resource] by O'Keefe, Siobhán Wefuan, Dieter T Humberson, Jennifer B Schmidt, Karen Wiley, John Producer: 20170517 In: Journal of medical case reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	593.	Adult Prader-Willi Syndrome: An Update on Management. [electronic resource] by Ho-Ming, Luk Producer: 20160704 In: Case reports in genetics vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	594.	A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death. [electronic resource] by Sauer, Charles W Marc-Aurele, Krishelle L Producer: 20170207 In: The American journal of case reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	595.	Combination Therapy of Simeprevir and Sofosbuvir in Recurrent HCV Genotype 4 After Liver Retransplantation: Case Report. [electronic resource] by Obed, Aiman Jarrad, Anwar Bashir, Abdalla Moog, Gero Producer: 20161213 In: The American journal of case reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	596.	Pseudomembranous colitis secondary to methicillin-resistant Staphylococcus aureus (MRSA). [electronic resource] by Pressly, Kalynn B Hill, Emilie Shah, Kairav J Producer: 20170123 In: BMJ case reports vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	597.	Dabrafenib in an elderly patient with metastatic melanoma and BRAF V600R mutation: a case report. [electronic resource] by Casadevall, David Vidal, Joana Gallardo, Fernando Zuccarino, Flavio Arumí-Uría, Montserrat Dalmases, Alba Bellosillo, Beatriz Montagut, Clara Producer: 20170116 In: Journal of medical case reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	598.	Co-occurrence of biphenotypic acute leukaemia, glucose 6-phosphate dehydrogenase deficiency and haemoglobin E trait in a single child. [electronic resource] by Mallick, Debkrishna Thapa, Rajoo Biswas, Biswajit Producer: 20161025 In: BMJ case reports vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	599.	Perianal melanoma with a BRAF gene mutation in a young Portuguese Roma native. [electronic resource] by Tan, Jennifer Producer: 20161020 In: BMJ case reports vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	600.	OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. [electronic resource] by Agange, Negin Sarraf, David Producer: 20170425 In: Retinal cases & brief reports vol. 11 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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