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	461.	MYH9-related disorders: a rare cause of neonatal thrombocytopaenia. [electronic resource] by Marques, Maria Inês Carrington Queiró, Luísa Prior, Ana Rita Lopo Tuna, Madalena Producer: 20181121 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	462.	Novel [electronic resource] by Wang, Xike Wu, Yue Cui, Yuxia Wang, Nan Folkersen, Lasse Wang, Yuchuan 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)
	463.	The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report. [electronic resource] by Asafa, Muritala A Bolarinwa, Rahman A Eluwole, Omotayo A Ibitoye, Bolanle O Adegoke, Adesoji M Ogunlade, Oluwadare Producer: 20190222 In: Journal of medical case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	464.	Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report. [electronic resource] by Hosseini Bereshneh, Ali Garshasbi, Masoud Producer: 20190508 In: Journal of medical case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	465.	A case of young diabetes and parasuicide. [electronic resource] by Lodha, Sailesh Das, Liza Ramchandani, Ghanshyam das Bhansali, Anil Producer: 20190107 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	466.	Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report. [electronic resource] by Nasereddin, Abedelmajeed Ereqat, Suheir Producer: 20190222 In: Journal of medical case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	467.	Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. [electronic resource] by Shenoy, Rathika Damodara Shenoy, Vijaya Shetty, Vikram 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)
	468.	Alarming increase in HbA1c and near misdiagnosis of diabetes mellitus resulting from a clinical laboratory instrument upgrade and haemoglobin variant. [electronic resource] by Chessler, Steven D Lee, Donald E Producer: 20181030 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	469.	Influenza B-related meningoencephalitis in adults. [electronic resource] by Yong, Chen Han Vallat, Wilson Norton, Graham Producer: 20181107 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	470.	Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia. [electronic resource] by Azim, M Kamran Mehnaz, Aisha Ahmed, Javeria Z Mujtaba, Ghulam Producer: 20190805 In: CEN case reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	471.	Trisomy 5 as the sole chromosomal anomaly in acute lymphoblastic leukaemia. [electronic resource] by Vaswani, Preeti Prerna M Dumagay, Teresita E Producer: 20181211 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	472.	A challenging case of primary amenorrhoea. [electronic resource] by Sarathi, Vijaya Reddy, Ramesh Atluri, Sridevi Shivaprasad, Channabasappa Producer: 20181108 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	473.	Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report. [electronic resource] by Seidlmayer, L K Riediger, F Pagonas, N Nordbeck, P Ritter, O Sasko, B Producer: 20190123 In: Journal of medical case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	474.	A novel KIF5B-ALK fusion in a child with an atypical central nervous system inflammatory myofibroblastic tumour. [electronic resource] by Maruggi, Marco Malicki, Denise M Levy, Michael L Crawford, John Ross Producer: 20190311 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	475.	Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN). [electronic resource] by Sakamoto, Akio Arai, Ryuzo Okamoto, Takeshi Yamada, Yosuke Yamakado, Hodaka Matsuda, Shuichi Producer: 20190212 In: The American journal of case reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	476.	None [electronic resource] by Marttila, Minttu Win, Wathone Al-Ghamdi, Fouad Abdel-Hamid, Hoda Z Lacomis, David Beggs, Alan H Producer: 20200706 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)
	477.	Primary aldosteronism associated with a germline variant in [electronic resource] by Wulczyn, Kendra Perez-Reyes, Edward Nussbaum, Robert L Park, Meyeon Producer: 20191216 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	478.	Inflammatory flaccid myelitis in a patient with both anti-CRMP-5 IgG and CNS HIV escape. [electronic resource] by Arora, Rajan P Treister, Andrew K Karris, Maile Y Ellis, Ronald J Producer: 20200106 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	479.	Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a [electronic resource] by Wood, Olivia R Else, Tobias Sampson, Matthew G 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)
	480.	Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient. [electronic resource] by Bukhari, Nedal Azam, Faisal Alfawaz, Mohammed Zahrani, Mohammed 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)

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Your search returned 866 results.