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	121.	Base excision repair deficiency signatures implicate germline and somatic [electronic resource] by Thibodeau, My Linh Zhao, Eric Y Reisle, Caralyn Ch'ng, Carolyn Wong, Hui-Li Shen, Yaoqing Jones, Martin R Lim, Howard J Young, Sean Cremin, Carol Pleasance, Erin Zhang, Wei Holt, Robert Eirew, Peter Karasinska, Joanna Kalloger, Steve E Taylor, Greg Majounie, Elisa Bonakdar, Melika Zong, Zusheng Bleile, Dustin Chiu, Readman Birol, Inanc Gelmon, Karen Lohrisch, Caroline Mungall, Karen L Mungall, Andrew J Moore, Richard Ma, Yussanne P Fok, Alexandra Yip, Stephen Karsan, Aly Huntsman, David Schaeffer, David F Laskin, Janessa Marra, Marco A Renouf, Daniel J Jones, Steven J M Schrader, Kasmintan A Producer: 20200407 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Microphthalmia with linear skin defects syndrome (MIDAS). [electronic resource] by Banganho, Denise Oliveira, Inês Machado, Catarina Póvoas, Marta Producer: 20191122 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Pallister-Hall Syndrome Presenting in Adolescence. [electronic resource] by Mahtabfar, Aria Buckley, Niall Murphy, Susan Danish, Shabbar Marshall, Ian 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)
	124.	Homozygous noncanonical splice variant in [electronic resource] by Okur, Volkan LeDuc, Charles A Guzman, Edwin Valivullah, Zaheer M Anyane-Yeboa, Kwame Chung, Wendy K Producer: 20200526 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. [electronic resource] by Dimova, Ivanka Kremensky, Ivo Publication details: Case reports in genetics 2018 In: Case reports in genetics vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia. [electronic resource] by Arwani, Mais Lee, Daniel Haddad, Abdullah Mewawalla, Prerna Producer: 20181107 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. [electronic resource] by Liu, Jiaojiao Shen, Qian Li, Guomin Xu, Hong Producer: 20190318 In: Journal of medical case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	CLINICAL PRESENTATIONS, DIAGNOSTIC DILEMMA, AND MANAGEMENT OUTCOMES OF CHRONIC POSTOPERATIVE ENDOPHTHALMITIS CAUSED BY STEPHANOASCUS CIFERRII. [electronic resource] by Dave, Vivek Pravin Sharma, Savitri Dave, Prachi Jhala Joseph, Joveeta Pappuru, Rajeev Reddy Producer: 20211029 In: Retinal cases & brief reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient. [electronic resource] by Chen, Dillon Y Crawford, John Ross Producer: 20190115 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	In-frame de novo mutation in [electronic resource] by Koboldt, Daniel C Kastury, Rama D Waldrop, Megan A Kelly, Benjamin J Mosher, Theresa Mihalic McLaughlin, Heather Corsmeier, Don Slaughter, Jonathan L Flanigan, Kevin M McBride, Kim L Mehta, Lakshmi Wilson, Richard K White, Peter Producer: 20190731 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst. [electronic resource] by Erdrich, Jennifer Schaberg, Kurt B Khodadoust, Michael S Zhou, Li Shelton, Andrew A Visser, Brendan C Ford, James M Alizadeh, Ash A Quake, Stephen R Kunz, Pamela L Beausang, John F Producer: 20190731 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies. [electronic resource] by Toppings, N B McMillan, J M Au, P Y B Suchowersky, O Donovan, L E Publication details: Case reports in endocrinology 2018 In: Case reports in endocrinology vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia. [electronic resource] by Botero, Verónica Garcia, Victor H Gomez-Duarte, Catalina Aristizabal, Ana M Arrunategui, Ana M Echeverri, Gabriel J Pachajoa, Harry Producer: 20181126 In: The American journal of case reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Cytomegalovirus-associated haemophagocytic lymphohistiocytosis: a rare cause of febrile neutropenia during cancer chemotherapy. [electronic resource] by Bergmann, Kristin Møller, Hanne Elisabeth Højsgaard Bergmann, Olav Jonas Producer: 20190107 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Novel mutation in the [electronic resource] by Sandal, Sapna Kaur, Anupriya Panigrahi, Inusha Producer: 20190104 In: BMJ case reports vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Clinical and genetic characterization of individuals with predicted deleterious [electronic resource] by Craddock, Kirsten E Okur, Volkan Wilson, Ashley Gerkes, Erica H Ramsey, Keri Heeley, Jennifer M Juusola, Jane Vitobello, Antonio Dupeyron, Marie-Noelle Bonnet Faivre, Laurence Chung, Wendy K Producer: 20200706 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome. [electronic resource] by Kotecha, Shrinal Kairamkonda, Venkatesh Producer: 20200113 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib. [electronic resource] by Bhattacharya, Deepanjan Kumar Bn, Anil Panigrahi, Inusha Kaur, Anupriya Producer: 20200121 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	First Report of Diabetes Phenotype due to a Loss-of-Function [electronic resource] by Koufakis, Theocharis Sertedaki, Amalia Tatsi, Elizabeth-Barbara Trakatelli, Christina-Maria Karras, Spyridon N Manthou, Eleni Kanaka-Gantenbein, Christina Kotsa, Kalliopi 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)
	140.	Intellectual disability in boys: mark the face! [electronic resource] by Saini, Surya Singanamala, Bhanudeep Saini, Arushi Gahlot Producer: 20191216 In: BMJ case reports vol. 12 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.