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	1.	Cytomegalovirus encephalitis in an immunocompetent child: a sceptic diagnosis. [electronic resource] by Belo, Filipa Mendes, Isabel Calha, Manuela Mendonça, Carla Producer: 20140121 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea. [electronic resource] by Dutta, Usha R Pidugu, Vijaya Kumar Dalal, Ashwin Producer: 20121203 In: Case reports in genetics vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. [electronic resource] by Sheth, F Akinde, O R Datar, C Adeteye, O V Sheth, J Producer: 20121211 In: Case reports in genetics vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India. [electronic resource] by Shabir, Iram Marumudi, Eunice Khurana, Madan L Khadgawat, Rajesh Producer: 20130417 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [electronic resource] by Kohannim, Omid Peredo, Jane Dipple, Katrina M Quintero-Rivera, Fabiola Producer: 20121018 In: Case reports in genetics vol. 2011 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. [electronic resource] by Abdalla, E M Morsy, H Producer: 20121018 In: Case reports in genetics vol. 2011 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency. [electronic resource] by Birkebæk, N H Sørensen, J S Vikre-Jørgensen, J Jensen, P K A Pedersen, O Hansen, T Producer: 20121018 In: Case reports in genetics vol. 2011 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair. [electronic resource] by Pavone, Piero Praticò, Andrea Domenico Pavone, Vito Falsaperla, Raffaele Producer: 20130422 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Pathological changes long after liver transplantation in a familial amyloidotic polyneuropathy patient. [electronic resource] by Obayashi, Konen Ueda, Mitsuharu Oshima, Toshinori Kawahara, Satomi Misumi, Yohei Yamashita, Taro Jono, Hirofumi Yazaki, Masahide Kametani, Fuyuki Ikeda, Shu-ichi Ohya, Yuki Asonuma, Katsuhiro Inomata, Yukihiro Ando, Yukio Producer: 20140221 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia. [electronic resource] by Dereksson, Kristjan Kjartansson, Sveinn Hjartardóttir, Hulda Arngrimsson, Reynir Producer: 20130317 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Is 46XX karyotype always a female? [electronic resource] by Ahmad, Ayesha Siddiqui, Mohammad Asim Goyal, Anju Wangnoo, Subhash Kumar Producer: 20140107 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	PCR use in miliary tuberculosis presenting with acute respiratory distress syndrome. [electronic resource] by Riachy, Moussa Albert Producer: 20130903 In: BMJ case reports vol. 2011 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor. [electronic resource] by El Aziz, Siham Chadli, Asma El Ghomari, Hassan Farouqi, Ahmed Producer: 20130212 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin. [electronic resource] by Thouvenin, Guillaume Nathan, Nadia Epaud, Ralph Clement, Annick Producer: 20140916 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal? [electronic resource] by White, M Conroy, J Bullman, H Lever, M Daly, E Betts, D R Cody, D Crolla, John A Lynch, S A Producer: 20130221 In: Case reports in genetics vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. [electronic resource] by Fostira, Florentia Tsoukalas, Nikolaos Konstantopoulou, Irene Georgoulias, Vassilios Christophyllakis, Charalambos Yannoukakos, Drakoulis Producer: 20140324 In: Case reports in genetics vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A rare cause of susceptibility to neutropenic sepsis in a patient with metastatic pancreas cancer. [electronic resource] by Suarez Martinez-Falero, Beatriz Gillmore, Roopinder Producer: 20141118 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report. [electronic resource] by Kishiya, Masaki Nakamura, Yoshihide Ohishi, Hirotaka Furukawa, Ken-Ichi Ishibashi, Yasuyuki Producer: 20150515 In: Journal of medical case reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Incidental finding of papillary thyroid carcinoma with BRAFV600E mutation in a patient with coexistent primary hyperparathyroidism and Graves' hyperthyroidism. [electronic resource] by He, Yayi Liu, Shu Guo, Hui Shi, Bingyin Producer: 20150212 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A differential to consider in a case of non-healing skin lesion. [electronic resource] by Goturu, Aruna Jain, Neemisha Producer: 20150121 In: BMJ case reports vol. 2014 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.