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	21.	A turner syndrome patient carrying a mosaic distal x chromosome marker. [electronic resource] by Mazzaschi, Roberto L P Taylor, Juliet Robertson, Stephen P Love, Donald R George, Alice M Producer: 20140429 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)
	22.	Genetics of human growth. [electronic resource] by Ogata, Tsutomu Producer: 20140624 In: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Infant case of lysosomal acid lipase deficiency: Wolman's disease. [electronic resource] by Sadhukhan, Meghmala Saha, Amit Vara, Roshni Bhaduri, Bim Producer: 20150107 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	A 'picturesque' case of transition from subcutaneous to oral treatment in neonatal diabetes. [electronic resource] by Verstappen, Stephanie Mul, Dick Producer: 20141217 In: BMJ case reports vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features. [electronic resource] by Mc Cormack, Adrian Taylor, Juliet Te Weehi, Leah Love, Donald R George, Alice M 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)
	26.	Femoral-facial syndrome in an infant of a diabetic mother. [electronic resource] by Ahmed, Saleem Alsaedi, Saad Abdullah Al-Wassia, Heidi Al-Aama, Jumana Yousef Producer: 20160523 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	A preterm neonate with seizures unresponsive to conventional treatment. [electronic resource] by Raimondi, Francesco Mills, Philippa Clayton, Peter T Del Giudice, Ennio Producer: 20160209 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report. [electronic resource] by Ranasinghe, Jagath C Chandradasa, Damitha Fernando, Sanjaya Kodithuwakku, Uditha Mandawala, D E N Dissanayake, Vajira H W Producer: 20160325 In: Journal of medical case reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Oral polyp as the presenting feature of Beckwith-Wiedemann syndrome in a child. [electronic resource] by Kujan, Omar Raheel, Syed Ahmed King, David Iqbal, Fareed Producer: 20160719 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis. [electronic resource] by Molinario, Rossana Palumbo, Sara Concolino, Paola Rocchetti, Sandro Rizza, Roberta Scaglione, Giovanni Luca Minucci, Angelo Capoluongo, Ettore Producer: 20150429 In: Case reports in genetics vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Very early virological failure and drug resistance mutations in a woman on antiretroviral therapy in Eastern Cape, South Africa: a case report. [electronic resource] by Sogbanmu, Olufunso Oladipo Adeniyi, Oladele Vincent Fuentes, Yusimi Ordaz Ter Goon, Daniel Producer: 20160119 In: Journal of medical case reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation. [electronic resource] by Tomás, José Durães, João Lacerda, Lúcia Macário, Maria Carmo Producer: 20160802 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Small bowel varices secondary to chronic superior mesenteric vein thrombosis in a patient with heterozygous Factor V Leiden mutation: a case report. [electronic resource] by Garcia, Maria C Ahlenstiel, Golo Mahajan, Hema van der Poorten, David Producer: 20160211 In: Journal of medical case reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. [electronic resource] by Nielsen, Jakob Kofod-Olsen, Emil Spaun, Eva Larsen, Carsten S Christiansen, Mette Mogensen, Trine Hyrup Producer: 20160701 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis. [electronic resource] by Elboraee, Mohamed Sabry Clarke, Gwen Belletrutti, Mark J Escoredo, Sandra Producer: 20160630 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. [electronic resource] by Bussmann, Neidin Cunningham, Katie Green, Andrew Ryan, C Anthony Producer: 20160927 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). [electronic resource] by Jerath, Nivedita U Grider, Tiffany Shy, Michael E Producer: 20151106 In: Case reports in genetics vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. [electronic resource] by Mandrile, Giorgia Di Gregorio, Eleonora Calcia, Alessandro Brussino, Alessandro Grosso, Enrico Savin, Elisa Giachino, Daniela Francesca Brusco, Alfredo Producer: 20141216 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)
	39.	Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. [electronic resource] by Cho, Sun-Mi Hong, Bo Young Kim, Yoonjung Lee, Sang Guk Yang, Jin-Young Kim, Juwon Lee, Kyung-A Producer: 20141216 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)
	40.	Severe psychomotor delay in a severe presentation of cat-eye syndrome. [electronic resource] by Jedraszak, Guillaume Receveur, Aline Andrieux, Joris Mathieu-Dramard, Michèle Copin, Henri Morin, Gilles Producer: 20150204 In: Case reports in genetics 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.