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	741.	Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. [electronic resource] by Chaudhary, Nagendra Shrestha, Sandeep Halwai, Hemant Kumar Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	742.	Neoplasia in Cri du Chat Syndrome from Italian and German Databases. [electronic resource] by Guala, Andrea Spunton, Marianna Kalantari, Silvia Kennerknecht, Ingo Danesino, Cesare Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	743.	KRAS and GNAS Co-Mutation in Metastatic Low-Grade Appendiceal Mucinous Neoplasm (LAMN) to the Ovaries: A Practical Role for Next-Generation Sequencing. [electronic resource] by Matson, Daniel R Xu, Jin Huffman, Laura Barroilhet, Lisa Accola, Molly Rehrauer, William M Weisman, Paul Producer: 20171201 In: The American journal of case reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	744.	Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. [electronic resource] by Bentel, Jacqueline May Thomas, Marc Andrew Rodgers, Jamie John Arooj, Mahreen Gray, Elin Allcock, Richard Fermoyle, Soraya Mancera, Ricardo Luis Cannell, Paul Parry, Jeremy Producer: 20180220 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	745.	A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report. [electronic resource] by Al-Haidary, Adel S Alotaibi, Wadha Alhaider, Sami A Al-Saleh, Suhail Producer: 20180221 In: Journal of medical case reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	746.	Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. [electronic resource] by Shao, Elichilia R Kiyegi, Lucas F Mwasamwaja, Amos O Kilonzo, Kajiru Hamel, Ben C J Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	747.	Whole-genome sequencing identifies homozygous [electronic resource] by Purshouse, Karin Schuh, Anna Fairfax, Benjamin P Knight, Sam Antoniou, Pavlos Dreau, Helene Popitsch, Niko Gatter, Kevin Roberts, Ian Browning, Lisa Traill, Zoe Kerr, David Verrill, Clare Tuthill, Mark Taylor, Jenny C Protheroe, Andrew Producer: 20171117 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	748.	Novel de novo variant in [electronic resource] by Blackburn, Patrick R Barnett, Sarah S Zimmermann, Michael T Cousin, Margot A Kaiwar, Charu Pinto E Vairo, Filippo Niu, Zhiyv Ferber, Matthew J Urrutia, Raul A Selcen, Duygu Klee, Eric W Pichurin, Pavel N Producer: 20171117 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	749.	Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports. [electronic resource] by Duarte, Fernando Barroso Lemes, Romélia Pinheiro Gonçalves Dos Santos, Talyta Ellen de Jesus Barbosa, Maritza Cavalcante de Vasconcelos, João Paulo Leitão Rocha-Filho, Francisco Dário Zalcberg, Ilana Coutinho, Diego Figueiredo, Monalisa Feliciano Carlos, Luciana Barros de Vasconcelos, Paulo Roberto Leitão Producer: 20180420 In: Journal of medical case reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	750.	Postoperative Mycoplasma hominis brain abscess: keep it in mind! [electronic resource] by Bergin, Sarah Maria Mendis, Shehara M Young, Barnaby Binti Izharuddin, Ezlyn Producer: 20170306 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	751.	Refractory primary immune thrombocytopenia with subsequent del(5q) MDS: complete remission of both after lenalidomide. [electronic resource] by Mortensen, Thomas Bech Frederiksen, Henrik Marcher, Claus Werenberg Preiss, Birgitte Producer: 20170306 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	752.	Sepsis and siderosis, Yersinia enterocolitica and hereditary haemochromatosis. [electronic resource] by Thwaites, Phoebe A Woods, Marion L Producer: 20170306 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	753.	Multidisciplinary approach to the management of a case of classical respiratory diphtheria requiring percutaneous endoscopic gastrostomy feeding. [electronic resource] by Haywood, Matthew James Vijendren, Ananth Acharya, Vikas Mulla, Rohinton Panesar, Miss Jaan Producer: 20170313 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	754.	Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease. [electronic resource] by López-Blanco, Roberto Rojo-Sebastián, Ana Torregrosa-Martínez, Maria Henedina Blazquez, Alberto Producer: 20180402 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	755.	Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. [electronic resource] by Zimmermann, Nives Stanek, Jerzy Producer: 20171201 In: The American journal of case reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	756.	Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men. [electronic resource] by Abou Alchamat, Ghalia Madania, Ammar Alhalabi, Marwan Producer: 20180409 In: BMJ case reports vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	757.	Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. [electronic resource] by Bodian, Dale L Vilboux, Thierry Hourigan, Suchitra K Jenevein, Callie L Mani, Haresh Kent, Kathleen C Khromykh, Alina Solomon, Benjamin D Hauser, Natalie S Producer: 20180101 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	758.	Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report. [electronic resource] by Schinagl, Carina Melum, Guro Reinholt Rødningen, Olaug Kristin Bjørgo, Kathrine Andresen, Jannicke Hanne Producer: 20180710 In: Journal of medical case reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	759.	A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. [electronic resource] by Higuchi, Yousuke Hasegawa, Kosei Yamashita, Miho Tanaka, Hiroyuki Tsukahara, Hirokazu Producer: 20180508 In: Journal of medical case reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	760.	Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. [electronic resource] by Zimmermann, Michael T Urrutia, Raul A Blackburn, Patrick R Cousin, Margot A Boczek, Nicole J Klee, Eric W Macmurdo, Colleen Atwal, Paldeep S Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 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.