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	661.	Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease. [electronic resource] by Kishore, Rashmi Gupta, Aditya Gupta, Aditya Kumar Kabra, Sushil Kumar Producer: 20201007 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	662.	De novo X-linked Alport syndrome in a 3-year-old girl. [electronic resource] by Komatsu, Hiroshi Goda, Takeshi Nozu, Kandai Producer: 20200113 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	663.	HIV vasculopathy versus VZV vasculitis in an HIV patient with multiple brain ischaemic infarcts. [electronic resource] by Granja, Manuel F Monteiro, Andre Day, Jason Hanel, Ricardo Producer: 20200127 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	664.	Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome. [electronic resource] by Adlard, Julian Burton, Cathy Turton, Philip Publication details: Case reports in genetics 2019 In: Case reports in genetics vol. 2019 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	665.	Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation. [electronic resource] by Sihombing, Nydia Rena Benita de Leeuw, Nicole van Bokhoven, Hans Faradz, Sultana Mh Producer: 20200206 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	666.	A case of female Fabry disease revealed by renal biopsy. [electronic resource] by Aratani, Sae Yamakawa, Hiroyuki Suzuki, Shinya Otsuka, Tomoyuki Sakai, Yukinao Shimizu, Akira Tsuruoka, Shuichi Producer: 20210616 In: CEN case reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	667.	Ocular Manifestations of the [electronic resource] by Gupta, Angela S Saif, Hind Al Lent, Jennifer M Couser, Natario L Publication details: Case reports in genetics 2019 In: Case reports in genetics vol. 2019 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	668.	Fluorouracil sensitivity in a head and neck squamous cell carcinoma with a somatic [electronic resource] by Majounie, Elisa Wee, Kathleen Williamson, Laura M Jones, Martin R Pleasance, Erin Lim, Howard J Ho, Cheryl Renouf, Daniel J Yip, Stephen Jones, Steven J M Marra, Marco A Laskin, Janessa Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	669.	Personalized viral genomic investigation of herpes simplex virus 1 perinatal viremic transmission with dual fatality. [electronic resource] by Shipley, Mackenzie M Renner, Daniel W Pandey, Utsav Ford, Bradley Bloom, David C Grose, Charles Szpara, Moriah L Producer: 20200821 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)
	670.	Novel mutations in [electronic resource] by Dafsari, Hormos Salimi Kawalia, Amit Sprute, Rosanne Karakaya, Mert Malenica, Anna Herkenrath, Peter Nürnberg, Peter Motameny, Susanne Thiele, Holger Cirak, Sebahattin Producer: 20200821 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)
	671.	Novel in-frame [electronic resource] by Hickey, Scott E Koboldt, Daniel C Mosher, Theresa Mihalic Brennan, Patrick Schmalz, Beth A Crist, Erin McBride, Kim L Adler, Brent H White, Peter Wilson, Richard K Producer: 20200821 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)
	672.	Functional characterization of two rare BCR-FGFR1 [electronic resource] by Barnes, Evan J Leonard, Jessica Medeiros, Bruno C Druker, Brian J Tognon, Cristina E Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	673.	Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in [electronic resource] by Jauregui, Ruben Cho, Ahra Oh, Jin Kyun Tanaka, Akemi J Sparrow, Janet R Tsang, Stephen H Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	674.	None [electronic resource] by Lyon, Gholson J Marchi, Elaine Ekstein, Joseph Meiner, Vardiella Hirsch, Yoel Scher, Sholem Yang, Edward De Vivo, Darryl C Madrid, Ricardo Li, Quan Wang, Kai Haworth, Andrea Chilton, Ilana Chung, Wendy K Velinov, Milen Producer: 20200821 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)
	675.	Rat bite fever in senior health medicine. [electronic resource] by Pannetier, Lucile Wei-Xi Lombard, Emma Producer: 20201124 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	676.	CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT. [electronic resource] by Tipsuriyaporn, Boontip Ammar, Michael J Yonekawa, Yoshihiro Producer: 20220428 In: Retinal cases & brief reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	677.	Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article. [electronic resource] by Kaissi, Ali Al Kenis, Vladimir Shboul, Mohammad Grill, Franz Ganger, Rudolf Kircher, Susanne Gerit Producer: 20210816 In: Journal of investigative medicine high impact case reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	678.	Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report. [electronic resource] by Guerreiro, Vanessa Bernardes, Irene Pereira, Josué Silva, Roberto Pestana Fernandes, Susana Carvalho, Davide Freitas, Paula Producer: 20201130 In: Journal of medical case reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	679.	SEROLOGY NEGATIVE BARTONELLA NEURORETINITIS IN AN IMMUNOCOMPROMISED PATIENT. [electronic resource] by Wu, Annie M Zhao, Peter Y Wubben, Thomas J Hyde, Robert A Paulus, Yannis M Johnson, Mark W Producer: 20211227 In: Retinal cases & brief reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	680.	Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism. [electronic resource] by Santiago de Sousa Azulay, Rossana Magalhães, Marcelo Tavares, Maria da Gloria Dualibe, Roberta Barbosa, Lívia Sá Gaspar, Silvia Faria, André M Nascimento, Gilvan Cortês Damianse, Sabrina Da Silva Pereira Rocha, Viviane Chaves de Carvalho Gomes, Marília B Dos Santos Faria, Manuel Producer: 20210105 In: The American journal of case reports vol. 21 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.