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	181.	Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene. [electronic resource] by Massa, Guy Gillis, Philippe Schwartz, Marianne 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)
	182.	Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. [electronic resource] by Al-Murrani, Amel Ashton, Fern Aftimos, Salim George, Alice M Love, Donald R 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)
	183.	Familial aggregation of maxillary lateral incisor agenesis (MLIA). [electronic resource] by Pandey, Pallavi Ansari, Afroz Alam Choudhary, Kartik Saxena, Aditya Producer: 20130903 In: BMJ case reports vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	184.	Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations. [electronic resource] by Sirisena, Nirmala D Wijetunge, U Kalpani S de Silva, Ramya Dissanayake, Vajira H W 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)
	185.	Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. [electronic resource] by Cisternino, Mariangela Della Mina, Erika Losa, Laura Madè, Alexandra Rossetti, Giulia Bassi, Lorenzo Andrea Pieri, Giovanni Bayindir, Baran Messa, Jole Zuffardi, Orsetta Ciccone, Roberto 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)
	186.	Dent's disease complicated by an acute Budd-Chiari syndrome. [electronic resource] by Platt, Caroline Jadresic, Lyda Dudley, Jan Hartley, Jane L Producer: 20141008 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	187.	First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier. [electronic resource] by Rouen, Alexandre Hyon, Capucine Balet, Richard Joyé, Nicole Cassuto, Nino Guy Siffroi, Jean-Pierre Producer: 20140303 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)
	188.	Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [electronic resource] by Bai, Shaochun Lozada, Anthony Jones, Marilyn C Dietz, Harry C Dempsey, Melissa Das, Soma Producer: 20140318 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)
	189.	Warfarin Dosing in a Patient with CYP2C9(∗)3(∗)3 and VKORC1-1639 AA Genotypes. [electronic resource] by Johnson, Mark Richard, Craig Bogdan, Renee Kidd, Robert Producer: 20140314 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)
	190.	An interstitial deletion at 10q26.2q26.3. [electronic resource] by Iourov, Ivan Y Vorsanova, Svetlana G Kurinnaia, Oxana S Yurov, Yuri B 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)
	191.	A Case of False Negative NIPT for Down Syndrome-Lessons Learned. [electronic resource] by Smith, Meagan Lewis, Kimberly M Holmes, Alexandrea Visootsak, Jeannie 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)
	192.	Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. [electronic resource] by Thakur, Pankaj Speer, Paul Rajkovic, Aleksandar Producer: 20140812 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)
	193.	Complex variant of Philadelphia translocation involving chromosomes 9, 12, and 22 in a case with chronic myeloid leukaemia. [electronic resource] by Malvestiti, F Agrati, C Chinetti, S Di Meco, A Cirrincione, S Oggionni, M Grimi, B Maggi, F Simoni, G Grati, F R Producer: 20140721 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)
	194.	Hypertension in a teenager: a family affair. [electronic resource] by Dubb, Sukhpreet Singh Tafader, Asiya Meeran, Karim Fletcher, Jeremy Producer: 20150221 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	195.	Successful management of Panton-Valentine leukocidine-positive necrotising pneumonia and A/H1N12009 influenzavirus coinfection in adult. [electronic resource] by Riedweg-Moreno, Karena Wallet, Frederic Blazejewski, Caroline Goffard, Anne Producer: 20150221 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	196.	Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. [electronic resource] by Sánchez, Javier Peciña, Ana Alonso-Luengo, Olga González-Meneses, Antonio Vázquez, Rocío Antiñolo, Guillermo Borrego, Salud Producer: 20141107 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)
	197.	Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report. [electronic resource] by Dias-Santos, Arnaldo Ferreira, Joana Cunha, João Paulo 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)
	198.	Clinical report of a 17q12 microdeletion with additionally unreported clinical features. [electronic resource] by Roberts, Jennifer L Gandomi, Stephanie K Parra, Melissa Lu, Ira Gau, Chia-Ling Dasouki, Majed Butler, Merlin G Producer: 20140703 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)
	199.	Prolapse of all cardiac valves in Noonan syndrome. [electronic resource] by Otikunta, Adikesava Naidu Subbareddy, Y V Polamuri, Praneeth Thakkar, Ashok 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)
	200.	Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. [electronic resource] by Abou Ziki, Maen D Verjee, Mohamud A Producer: 20150909 In: BMJ case reports vol. 2015 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.