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	641.	Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene. [electronic resource] by Yelam, Anudeep Nagarajan, Elanagan Chuquilin, Miguel Govindarajan, Raghav Producer: 20190425 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	642.	Haemophagocytic lymphohistiocytosis with collapsing lupus podocytopathy as an unusual manifestation of systemic lupus erythematosus with APOL1 double-risk alleles. [electronic resource] by Chokshi, Bhavin D'Agati, Vivette Bizzocchi, Lilian Johnson, Beverly Mendez, Barbara Jim, Belinda Producer: 20190424 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	643.	Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene. [electronic resource] by Wakil, Salma M Monies, Dorota Hagos, Samya Al-Ajlan, Fahad Finsterer, Josef Al Qahtani, Aisha Ramzan, Khushnooda Al Humaidy, Rawan Al-Muhaizea, Mohamed A Meyer, Brian Bohlega, Saeed A Publication details: Case reports in genetics 2018 In: Case reports in genetics vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	644.	Novel intronic [electronic resource] by Leckey, Bruce D Carney, John M Sun, Jessica M Pavlisko, Elizabeth N Producer: 20190502 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	645.	Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. [electronic resource] by Lipinski, Simone Petersen, Britt-Sabina Barann, Matthias Piecyk, Agnes Tran, Florian Mayr, Gabriele Jentzsch, Marlene Aden, Konrad Stengel, Stephanie T Klostermeier, Ulrich C Sheth, Vrunda Ellinghaus, David Rausch, Tobias Korbel, Jan O Nothnagel, Michael Krawczak, Michael Gilissen, Christian Veltman, Joris A Forster, Michael Forster, Peter Lee, Clarence C Fritscher-Ravens, Annette Schreiber, Stefan Franke, Andre Rosenstiel, Philip Producer: 20200330 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	646.	None [electronic resource] by Hagiya, Hideharu Producer: 20190614 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	647.	Unusual KRAS missense mutation (p.E63K) in patient with juvenile pilocytic astrocytoma of the tectum. [electronic resource] by Chau, Lianne Q Levy, Michael L Crawford, John Ross Producer: 20190617 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	648.	Concurrent JAK2-Positive Myeloproliferative Disorder and Chronic Myelogenous Leukemia: A Novel Entity? A Case Report With Review of the Literature. [electronic resource] by Bader, Gilbert Dreiling, Bernard Producer: 20200618 In: Journal of investigative medicine high impact case reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	649.	A newly identified mutation in the [electronic resource] by Tanaka, Akemi J Okumoto, Kanji Tamura, Shigehiko Abe, Yuichi Hirsch, Yoel Deng, Liyong Ekstein, Joseph Chung, Wendy K Fujiki, Yukio Producer: 20200330 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	650.	Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes. [electronic resource] by Koopal, Charlotte Bemelmans, Remy Marais, A David Visseren, Frank Lj Producer: 20190805 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	651.	Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. [electronic resource] by Fukushima, Kazunori Kawai-Kowase, Keiko Yonemoto, Yukio Fujiwara, Makoto Sato, Hiroko Sato, Mahito Kubota, Takuo Ozono, Keiichi Tamura, Junich Producer: 20191125 In: Journal of medical case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	652.	An autopsy case of anaplastic lymphoma kinase-positive lung cancer exacerbated in a short period of time: a case report. [electronic resource] by Takeda, Masahide Sato, Kazuhiro Sakamoto, Sho Suzuki, Maya Izumiya, Yuka Kumagai, Naho Sudo, Kazuhisa Okuda, Yuji Asano, Mariko Sano, Masaaki Omori, Yasufumi Nakayama, Katsutoshi Producer: 20191125 In: Journal of medical case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	653.	Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report. [electronic resource] by Siracusano, Martina Riccioni, Assia Baratta, Antonia Baldi, Maurizia Curatolo, Paolo Mazzone, Luigi Producer: 20191125 In: Journal of medical case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	654.	A Successful Collaborative Approach to the Perioperative Management After Hip Arthroscopy of a Patient with Heterozygous Prothrombin G20210A Mutation: A Case Report. [electronic resource] by Parsa, Ali Nazal, Mark R Stelzer, John W Sieff, Colin A Martin, Scott D Producer: 20200623 In: JBJS case connector vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	655.	Lethal multiple pterygium syndrome. [electronic resource] by Mohtisham, Farzeen Shuaib Sallam, Adel Shawli, Aiman Producer: 20191203 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	656.	Detection of a cryptic [electronic resource] by Peterson, Jess F Pitel, Beth A Smoley, Stephanie A Smadbeck, James B Johnson, Sarah H Vasmatzis, George Koon, Sarah J Webley, Matthew R McGrath, Mary Bayerl, Michael G Baughn, Linda B Rowsey, Ross A Ketterling, Rhett P Greipp, Patricia T Hoppman, Nicole L Producer: 20200407 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	657.	Trisomy 21 in both fetuses in a DCDA twin pregnancy. [electronic resource] by Ong, Jiawen Gosavi, Arundhati Biswas, Arijit Choolani, Mahesh Producer: 20190812 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	658.	A family case of X-linked Alport syndrome patients with a novel variant in COL4A5. [electronic resource] by Kashiwagi, Yasuyo Suzuki, Shinji Agata, Kazushi Morishima, Yasuyuki Inagaki, Natsuko Numabe, Hironao Kawashima, Hisashi Producer: 20190813 In: CEN case reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	659.	Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia. [electronic resource] by Khurana, Monica Edwards, Donna Rescorla, Frederic Miller, Caroline He, Ying Sierra Potchanant, Elizabeth Nalepa, Grzegorz Producer: 20190731 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	660.	Acute retinal necrosis in a patient with remote severe herpes simplex encephalitis. [electronic resource] by Kobayashi, Takaaki Sekar, Poorani Meier, Jeffery Streit, Judy Producer: 20200103 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 866 results.