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	701.	Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. [electronic resource] by Neocleous, Vassos Yiallouros, Panayiotis K Tanteles, George A Costi, Constantina Moutafi, Maria Ioannou, Phivos Patsalis, Philippos C Sismani, Carolina Phylactou, Leonidas A Producer: 20140320 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)
	702.	Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. [electronic resource] by Burgess, Trent Downie, Lilian Pertile, Mark D Francis, David Glass, Melissa Nouri, Sara Pszczola, Rosalynn Producer: 20140320 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)
	703.	Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. [electronic resource] by Domingues, Sara Isidoro, Lara Rocha, Dalila Sales Marques, Jorge Producer: 20140408 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)
	704.	Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion. [electronic resource] by O'Grady, Michael J Monavari, Ahmad A Cotter, Melanie Murphy, Nuala P Producer: 20160606 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	705.	Use of a medication passport in a disabled child seen across many care settings. [electronic resource] by Jubraj, Barry Blair, Mitchel Producer: 20160304 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	706.	Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo. [electronic resource] by Rijal, Jharendra P Dhakal, Prajwal Giri, Smith Dahal, Khagendra V Producer: 20150810 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	707.	Rothia aeria: a great mimicker of the Nocardia species. [electronic resource] by Saraya, Takeshi Yonetani, Shota Ogawa, Yukari Tanaka, Yasutaka Producer: 20150713 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	708.	Cytomegalovirus-induced hepatitis in an immunocompetent patient. [electronic resource] by Gupta, Prashant Suryadevara, Madhu Das, Avash Producer: 20150421 In: The American journal of case reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	709.	Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. [electronic resource] by D'Angelo, Rosalia Scimone, Concetta Esposito, Teresa Bruschetta, Daniele Rinaldi, Carmela Ruggeri, Alessia Sidoti, Antonina Producer: 20150521 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)
	710.	Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia. [electronic resource] by Forde, Hannah Elizabeth Hill, Arnold D Smith, Diarmuid Producer: 20150617 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	711.	Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion. [electronic resource] by Tam, Allison Lee, Kit Shan Lee, Sansan Burkhalter, William Pascua, Lucio U Slavin, Thomas P Producer: 20130812 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)
	712.	Panton-Valentine leukocidin-positive staphylococcus aureus necrotising pneumonia complicating pandemic A(H1N1) influenza infection. [electronic resource] by Valour, Florent Richard, Jean-Christophe Chidiac, Christian Ferry, Tristan Producer: 20140328 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	713.	Prenatal diagnosis of fetal peters' plus syndrome: a case report. [electronic resource] by Gupta, Neerja Kaul, Anita Kabra, Madhulika Producer: 20130828 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)
	714.	Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary to a mutation in the AMP gene. [electronic resource] by Schofield, Rebecca Sally McGarry, Katherine Murphy, Claire Louise O'Hare, Kevin Producer: 20140411 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	715.	Long-lasting response to crizotinib in brain metastases due to EML4-ALK-rearranged non-small-cell lung cancer. [electronic resource] by Kinoshita, Yoshiaki Koga, Yasutaka Sakamoto, Atsuhiko Hidaka, Kouko Producer: 20140418 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	716.	Discovery of familial cerebral cavernous malformation in a Saudi population. [electronic resource] by Nahrir, Shahpar Al-Hameed, Majed H Al-Sinaidi, Omar A Al Shakweer, Wafa Producer: 20141020 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	717.	Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from India. [electronic resource] by Sanap, Rupesh R Athalye, Arundhati S Madon, Prochi F Dhabhar, Boman N Sute, Mahendra B Mahabale, Amit A Warang, Dhanashree J Parikh, Firuza R Producer: 20130213 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)
	718.	A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband. [electronic resource] by Wilson, Nicole K A Lee, Yohan Long, Robert Hermetz, Karen Rudd, M Katharine Miller, Rachel Rapoport, Judith L Addington, Anjené M 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)
	719.	Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly. [electronic resource] by O'Connor, Rachel Al-Murrani, Amel Aftimos, Salim Asquith, Philip Mazzaschi, Roberto Eyrolle-Guignot, Dominique George, Alice M Love, Donald R 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)
	720.	Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome. [electronic resource] by Hernandes, Marina Araújo Fonzar Marques-Salles, Terezinha de Jesus Mkrtchyan, Hasmik Soares-Ventura, Eliane Maria Leite, Edinalva Pereira Muniz, Maria Tereza Cartaxo Cornélio, Maria Teresa Marquim Nogueira Liehr, Thomas Santos, Neide Silva, Maria Luiza Macedo Producer: 20121018 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)

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Your search returned 866 results.