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	801.	Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins. [electronic resource] by Panchalee, Tachjaree Ruangvutilert, Pornpimol Limsiri, Pattarawan Sutcharitpongsa, Pavit Producer: 20190207 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	802.	Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report. [electronic resource] by Adadi, Najlae Sahli, Maryem Egéa, Grégory Ratbi, Ilham Taoudi, Mohamed Zniber, Layla Jdioui, Wafaa El Mouatassim, Said Sefiani, Abdelaziz Producer: 20190228 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)
	803.	Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous [electronic resource] by Butler, Kameryn M Holt, Philip J Milla, Sarah S da Silva, Cristina Alexander, John J Escayg, Andrew 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)
	804.	GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME. [electronic resource] by Masoomian, Babak Shields, Carol L Mashayekhi, Arman Ganguly, Arupa Shields, Jerry A Producer: 20211022 In: Retinal cases & brief reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	805.	Ischaemic stroke in young following varicella zoster virus (VZV) infection: a rare complication. [electronic resource] by Madhyastha, Sharath P Gupta, Nidhi Acharya, Raviraja V Samad, Abdul Producer: 20190115 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	806.	Refractory and metastatic infantile fibrosarcoma harboring [electronic resource] by Bender, Jonathan Anderson, Bailey Bloom, David A Rabah, Raja McDougall, Rhonda Vats, Pankaj Mody, Rajen 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)
	807.	Unusual high-grade and low-grade glioma in an infant with PPP1CB-ALK gene fusion. [electronic resource] by Ng, Andrew Levy, Michael L Malicki, Denise M Crawford, John Ross Producer: 20190528 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	808.	A Start Codon Variant in [electronic resource] by Lindquist, Nathan R Appelbaum, Eric N Acharya, Anushree Vrabec, Jeffrey T Leal, Suzanne M Schrauwen, Isabelle 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)
	809.	Three rare disease diagnoses in one patient through exome sequencing. [electronic resource] by Ferrer, Alejandro Schultz-Rogers, Laura Kaiwar, Charu Kemppainen, Jennifer L Klee, Eric W Gavrilova, Ralitza H 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)
	810.	Diamond-Blackfan anemia RPL35A: a case report. [electronic resource] by Noel, Colin Byron Producer: 20200103 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)
	811.	De novo loss-of-function variants in [electronic resource] by Barrie, Elizabeth S Alfaro, Maria P Pfau, Ruthann B Goff, Melanie J McBride, Kim L Manickam, Kandamurugu Zmuda, Erik J 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)
	812.	BMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association? [electronic resource] by Harris, Rachel E Russell, Richard K 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)
	813.	A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature. [electronic resource] by Elkhatib, Safwan K Neilsen, Beth K Sleightholm, Richard L Baine, Michael J Zhen, Weining Producer: 20190624 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)
	814.	Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report. [electronic resource] by Lahiri, Durjoy Sawale, Vishal Madhukar Banerjee, Subhadeep Dubey, Souvik Roy, Biman Kanti Das, Shyamal Kumar Producer: 20190717 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)
	815.	Acute human bocavirus 1 infection in child with life-threatening bilateral bronchiolitis and right-sided pneumonia: a case report. [electronic resource] by Ziemele, Inga Xu, Man Vilmane, Anda Rasa-Dzelzkaleja, Santa Hedman, Lea Hedman, Klaus Söderlund-Venermo, Maria Nora-Krukle, Zaiga Murovska, Modra Gardovska, Dace Producer: 20200205 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)
	816.	Acquired complement C1 esterase inhibitor deficiency in a patient with a rare [electronic resource] by Rasmussen, Eva Rye Aanæs, Kasper Jakobsen, Marianne Antonius Bygum, Anette Producer: 20200210 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	817.	The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. [electronic resource] by Oliveira, Leandro J C Gongora, Aline B L Latancia, Marcela T Barbosa, Felipe G Gregorio, João Vitor A M Testagrossa, Leonardo A Amano, Mariane T Feher, Olavo Producer: 20200205 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)
	818.	Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a [electronic resource] by Wrzeszczynski, Kazimierz O Rahman, Sadia Frank, Mayu O Arora, Kanika Shah, Minita Geiger, Heather Felice, Vanessa Manaa, Dina Dikoglu, Esra Khaira, Depinder Chimpiri, A Rao Michelini, Vanessa V Jobanputra, Vaidehi Darnell, Robert B Powers, Scott Choi, Minsig 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)
	819.	A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. [electronic resource] by Saida, Ken Kamei, Koichi Morisada, Naoya Ogura, Masao Ogata, Kentaro Matsuoka, Kentaro Nozu, Kandai Iijima, Kazumoto Ito, 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)
	820.	Malignant phyllodes tumor in Lynch syndrome: a case report. [electronic resource] by Kazmi, Shayma Wagner, Steven Heintzelman, Rebecca Corbman, Melanie Producer: 20200120 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)

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