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	161.	Inherited cause of in utero digital malformations. [electronic resource] by Gooch, Catherine Wright, Caitlin Nelson, Katherine Robin, Nathaniel Producer: 20201208 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	162.	Regional metastatic paraganglioma of the bladder: a rare cause of myocardial infarction, reversible cardiomyopathy and an intracardiac thrombus. [electronic resource] by Kazakova, Vera Kadamkulam Syriac, Arun Perepletchikov, Aleksandr Sweeney, Ann T Producer: 20201201 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	163.	Acquisition of Cholera Within the United States. [electronic resource] by Maniam, Ganesh Nguyen, Emily N Milton, John Scott Producer: 20210816 In: Journal of investigative medicine high impact case reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	164.	Undifferentiated small round cell sarcoma in a young male: a case report. [electronic resource] by Ricker, Cora A Berlow, Noah E Crawford, Kenneth A Georgopapadakos, Todd Huelskamp, Audrey N Woods, Andrew D Dhimolea, Eugen Ramkissoon, Shakti H Spunt, Sheri L Rudzinski, Erin R Keller, Charles Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	165.	Expanding the phenotypic spectrum in RDH12-associated retinal disease. [electronic resource] by Scott, Hilary A Place, Emily M Ferenchak, Kevin Zampaglione, Erin Wagner, Naomi E Chao, Katherine R DiTroia, Stephanie P Navarro-Gomez, Daniel Mukai, Shizuo Huckfeldt, Rachel M Pierce, Eric A Bujakowska, Kinga M Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	166.	Branding of subjects affected with genetic syndromes of severe short stature in developing countries. [electronic resource] by Guevara-Aguirre, Jaime Guevara, Carolina Guevara, Alexandra Gavilanes, Antonio Awd Producer: 20200917 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	167.	Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. [electronic resource] by Petter, Cristian Moreira, Lilia Maria Azevedo Riegel, Mariluce 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)
	168.	A novel variant in [electronic resource] by AbuBakr, Fatima Jeffries, Lauren Ji, Weizhen McGrath, James M Lakhani, Saquib A Producer: 20210528 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	169.	Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 ( [electronic resource] by Marinelli, Lisa Ristagno, Elizabeth Fischer, Philip Abraham, Roshini Joshi, Avni Producer: 20201221 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	170.	Complete oral rehabilitation of a young girl suffering with amelogenesis imperfecta in association with analysis of her chromosomal pattern. [electronic resource] by Goswami, Mousumi Chattopadhyay, Sayan Arora, Rachita Talwar, Rashmi 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)
	171.	Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. [electronic resource] by Horne, Gillian A Chevassut, Timothy Producer: 20141124 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	172.	A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl. [electronic resource] by Nathan, Nadia Girodon, Emmanuelle Clement, Annick Corvol, Harriet Producer: 20141124 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	173.	Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14. [electronic resource] by Sánchez, Javier García-Díaz, Lutgardo Chinchón, David Antiñolo, Guillermo 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)
	174.	Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature. [electronic resource] by Al-Haggar, Mohammad Ahmad, Nermin Yahia, Sohier Shams, Amany Hasaneen, Bothina Hassan Hassan, Rasha Wahba, Yahya Salem, Nanees Abdel-Badie Abdel-Hady, Dina 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)
	175.	Tuberculous meningitis, an unusual presentation in a young lady. [electronic resource] by Chohan, Tanveer Jain, Arihant Saeed, Marwa Saeed, Saad Aldeen Dharmasena, Upul Kumara 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)
	176.	Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene. [electronic resource] by Novo, Ana Guerra, Isabel Couto Rocha, Felisbela Gama-de-Sousa, Susana Borges, Teresa Cerqueira, Rita Tavares, Purificação Fonseca, Paula Producer: 20140204 In: BMJ case reports vol. 2012 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	177.	Morbid obesity in a child with monosomy 1p36 syndrome. [electronic resource] by Zagalo, Ana Dias, Patricia Pereira, Carla Sampaio, Maria de Lurdes 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)
	178.	Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis. [electronic resource] by Miura, Akiko Kumabe, Yuri Kimura, En Yamashita, Satoshi Ueda, Akihiko Hirano, Teruyuki Uchino, Makoto Producer: 20130830 In: BMJ case reports vol. 2010 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	179.	Neonatal incontinentia pigmenti. [electronic resource] by Sashikumar, Palaniappan Mukherjee, Samudra Producer: 20130830 In: BMJ case reports vol. 2010 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	180.	Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. [electronic resource] by Fredheim, Siri Svensson, Jannet Pørksen, Sven Hansen, Lars Hansen, Torben Pedersen, Oluf Borbye Mortensen, Henrik Bindesbøl Barbetti, Fabrizio Nielsen, Lotte Brøndum 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)

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Your search returned 866 results.