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	121.	Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. [electronic resource] by Scheuvens, R Begemann, M Soellner, L Meschede, D Raabe-Meyer, G Elbracht, M Schubert, R Eggermann, T Producer: 20180316 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. [electronic resource] by Dos Santos, Alexsandro Campagnari, Francine Krepischi, Ana Cristina Victorino Ribeiro Câmara, Maria de Lourdes de Arruda Brasil, Rita de Cássia E Vieira, Ligia Vianna-Morgante, Angela M Otto, Paulo A Pearson, Peter L Rosenberg, Carla Producer: 20190724 In: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. [electronic resource] by Houghton, Jayne Al Banerjee, Indraneel Shaikh, Guftar Jabbar, Shamila Laver, Thomas W Cheesman, Edmund Chinnoy, Amish Yau, Daphne Salomon-Estebanez, Maria Dunne, Mark J Flanagan, Sarah E Producer: 20210622 In: The journal of pathology. Clinical research vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis. [electronic resource] by von Eggeling, F Langer, S Hoppe, C Liehr, T Weise, A Lederer, G Kotzot, D Producer: 20040316 In: Clinical genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	Placental hypoplasia in maternal uniparental disomy for chromosome 7. [electronic resource] by Yamazawa, Kazuki Kagami, Masayo Ogawa, Masamichi Horikawa, Reiko Ogata, Tsutomu Producer: 20080313 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	CD45-deficient severe combined immunodeficiency caused by uniparental disomy. [electronic resource] by Roberts, Joseph L Buckley, Rebecca H Luo, Biao Pei, Jianming Lapidus, Alla Peri, Suraj Wei, Qiong Shin, Jinwook Parrott, Roberta E Dunbrack, Roland L Testa, Joseph R Zhong, Xiao-Ping Wiest, David L Producer: 20120918 In: Proceedings of the National Academy of Sciences of the United States of America vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	[Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge]. [electronic resource] by Puerta-Roldan, P Guillen-Quesada, A Carrasco, R Muchart, J Serrano, M Ferrer, E Producer: 20190102 In: Revista de neurologia vol. 65 Availability: No items available. Save to lists Add to cart (remove)
	128.	Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. [electronic resource] by van der Werf, Ilse M Buiting, Karin Czeschik, Christina Reyniers, Edwin Vandeweyer, Geert Vanhaesebrouck, Piet Lüdecke, Hermann-Josef Wieczorek, Dagmar Horsthemke, Bernhard Mortier, Geert Leroy, Jules G Kooy, R Frank Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern. [electronic resource] by Niida, Yo Ozaki, Mamoru Shimizu, Masaki Ueno, Kazuyuki Tanaka, Tomomi Producer: 20180530 In: Cytogenetic and genome research vol. 154 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent. [electronic resource] by Shen, Ming-Ching Chen, Ming Chang, Shung-Ping Lin, Po-Te Hsieh, Han-Ni Lin, Kai-Hsin Producer: 20190404 In: Pediatric hematology and oncology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case. [electronic resource] by Chen, Man Jiang, Jian Li, Chen Ren, He Chen, Wei Liu, Zhiyong Cheng, Feng Zhao, Jing Chen, Tong Chen, Chuguang Yan, Jiangwei Producer: 20200102 In: International journal of legal medicine vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. [electronic resource] by Castori, Marco Floriddia, Giovanna Pisaneschi, Elisa Covaciu, Claudia Paradisi, Mauro Torrente, Isabella Castiglia, Daniele Producer: 20080807 In: Journal of dermatological science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Loss of centromeric histone H3 (CENH3) from centromeres precedes uniparental chromosome elimination in interspecific barley hybrids. [electronic resource] by Sanei, Maryam Pickering, Richard Kumke, Katrin Nasuda, Shuhei Houben, Andreas Producer: 20111123 In: Proceedings of the National Academy of Sciences of the United States of America vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	The Coat-Hanger Angle Sign. [electronic resource] by Vecchio, Davide Giuffrè, Mario Producer: 20180816 In: The Journal of pediatrics vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Uniparental disomy and prenatal phenotype: Two case reports and review. [electronic resource] by Li, Xiaofei Liu, Yan Yue, Song Wang, Li Zhang, Tiejuan Guo, Cuixia Hu, Wenjie Kagan, Karl-Oliver Wu, Qingqing Producer: 20171204 In: Medicine vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. [electronic resource] by Dupont, Jean-Michel Cuisset, Laurence Cartigny, Maryse Le Tessier, Dominique Vasseur, Christian Rabineau, Didier Jeanpierre, Marc Producer: 20030210 In: American journal of medical genetics vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis. [electronic resource] by Wattanasirichaigoon, D Promsonthi, P Chuansumrit, A Leopairut, J Yanatatsaneejit, P Rattanatanyong, P Munkongdee, T Fucharoen, S Mutirangura, A Producer: 20081118 In: Clinical genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Prenatal testing for uniparental disomy: indications and clinical relevance. [electronic resource] by Kotzot, D Producer: 20080519 In: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. [electronic resource] by Ogata, Tsutomu Kagami, Masayo Producer: 20170206 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5. [electronic resource] by Takama, Yuichi Kubota, Akio Nakayama, Masahiro Higashimoto, Ken Jozaki, Kosuke Soejima, Hidenobu Producer: 20161109 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 56 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 1009 results.