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	1621.	[Diseases caused by genetic defects in lysosomal muco-polysaccharide-catabolism. Mucopolysaccharidoses]. [electronic resource] by Passarge, E Wendel, U Wöhler, W Rüdiger, H W Producer: 19740528 In: Deutsche medizinische Wochenschrift (1946) vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1622.	Cantú syndrome is caused by mutations in ABCC9. [electronic resource] by van Bon, Bregje W M Gilissen, Christian Grange, Dorothy K Hennekam, Raoul C M Kayserili, Hülya Engels, Hartmut Reutter, Heiko Ostergaard, John R Morava, Eva Tsiakas, Konstantinos Isidor, Bertrand Le Merrer, Martine Eser, Metin Wieskamp, Nienke de Vries, Petra Steehouwer, Marloes Veltman, Joris A Robertson, Stephen P Brunner, Han G de Vries, Bert B A Hoischen, Alexander Producer: 20120823 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1623.	Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. [electronic resource] by Kurban, Mazen Kim, Chong Ae Kiuru, Maija Fantauzzo, Katherine Cabral, Rita Abbas, Ossama Levy, Brynn Christiano, Angela M Producer: 20120717 In: Dermatology (Basel, Switzerland) vol. 223 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1624.	Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients. [electronic resource] by Farrag, M S Mikula, I Richard, E Saudek, V De Verneuil, H Martásek, P Producer: 20161017 In: Folia biologica vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1625.	[Hereditary mucopolysaccharidoses]. [electronic resource] by Spranger, J Producer: 19711007 In: Medizinische Klinik vol. 66 Availability: No items available. Save to lists Add to cart (remove)
	1626.	Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. [electronic resource] by Hiraki, Yoko Miyatake, Satoko Hayashidani, Michiko Nishimura, Yutaka Matsuura, Hiroo Kamada, Masahiro Kawagoe, Takuji Yunoki, Keiji Okamoto, Nobuhiko Yofune, Hiroko Nakashima, Mitsuko Tsurusaki, Yoshinori Satisu, Hirotomo Murakami, Akira Miyake, Noriko Nishimura, Gen Matsumoto, Naomichi Producer: 20150413 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1627.	Persisting corneal erosion under cetuximab (Erbitux) treatment (epidermal growth factor receptor antibody). [electronic resource] by Foerster, Claudia G Cursiefen, Claus Kruse, Friedrich E Producer: 20080801 In: Cornea vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1628.	The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. [electronic resource] by Petit, Florence Jourdain, Anne-Sophie Holder-Espinasse, Muriel Keren, Boris Andrieux, Joris Duterque-Coquillaud, Martine Porchet, Nicole Manouvrier-Hanu, Sylvie Escande, Fabienne Producer: 20160919 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)
	1629.	Cardiovascular consequences of KATP overactivity in Cantu syndrome. [electronic resource] by Huang, Yan McClenaghan, Conor Harter, Theresa M Hinman, Kristina Halabi, Carmen M Matkovich, Scot J Zhang, Haixia Brown, G Schuyler Mecham, Robert P England, Sarah K Kovacs, Attila Remedi, Maria S Nichols, Colin G Producer: 20191220 In: JCI insight vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1630.	Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. [electronic resource] by de Zwart-Storm, Eugene A Rosa, Rafael F M Martin, Patricia E Foelster-Holst, Regina Frank, Jorge Bau, Ana E K Zen, Paulo R G Graziadio, Carla Paskulin, Giorgio A Kamps, Miriam A van Geel, Michel van Steensel, Maurice A M Producer: 20110916 In: Experimental dermatology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1631.	Minoxidil in severe hypertension with renal failure. Effect of its addition to conventional antihypertensive drugs. [electronic resource] by Limas, C J Freis, E D Producer: 19730419 In: The American journal of cardiology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1632.	Cutaneous complications in heart transplant recipients in Norway 1983-1993. [electronic resource] by Jensen, P Clausen, O P Geiran, O Simonsen, S Relbo, A Hansen, S Langeland, T Producer: 19960531 In: Acta dermato-venereologica vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1633.	[Dry eye]. [electronic resource] by Cursiefen, Claus Producer: 20131212 In: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1634.	Cholesterol homeostasis: Links to hair follicle biology and hair disorders. [electronic resource] by Palmer, Megan A Blakeborough, Liam Harries, Matthew Haslam, Iain S Producer: 20210927 In: Experimental dermatology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1635.	Trichomegaly of the eyelashes after lung cancer treatment with the epidermal growth factor receptor inhibitor erlotinib. [electronic resource] by Braiteh, Fadi Kurzrock, Razelle Johnson, Faye M Producer: 20080813 In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1636.	RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. [electronic resource] by Mietton, Léo Lebrun, Nicolas Giurgea, Irina Goldenberg, Alice Saintpierre, Benjamin Hamroune, Juliette Afenjar, Alexandra Billuart, Pierre Bienvenu, Thierry Producer: 20190514 In: Neuromolecular medicine vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1637.	Dominant missense mutations in ABCC9 cause Cantú syndrome. [electronic resource] by Harakalova, Magdalena van Harssel, Jeske J T Terhal, Paulien A van Lieshout, Stef Duran, Karen Renkens, Ivo Amor, David J Wilson, Louise C Kirk, Edwin P Turner, Claire L S Shears, Debbie Garcia-Minaur, Sixto Lees, Melissa M Ross, Alison Venselaar, Hanka Vriend, Gert Takanari, Hiroki Rook, Martin B van der Heyden, Marcel A G Asselbergs, Folkert W Breur, Hans M Swinkels, Marielle E Scurr, Ingrid J Smithson, Sarah F Knoers, Nine V van der Smagt, Jasper J Nijman, Isaac J Kloosterman, Wigard P van Haelst, Mieke M van Haaften, Gijs Cuppen, Edwin Producer: 20121105 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1638.	Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. [electronic resource] by Jinxiu, Liu Shuimei, Liang Ming, Xue Jonathan, Liu Cs Xiangju, Liu Wenyuan, Duan Producer: 20200423 In: Medicine vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1639.	[Clinical studies on urinary 17-ketogenic steroid fractions. I. Normal subjects and the patients with various endocrine disorders]. [electronic resource] by Tada, T Producer: 19681017 In: Nihon Naibunpi Gakkai zasshi vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1640.	Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. [electronic resource] by Marchegiani, Shannon Davis, Taylor Tessadori, Federico van Haaften, Gijs Brancati, Francesco Hoischen, Alexander Huang, Haigen Valkanas, Elise Pusey, Barbara Schanze, Denny Venselaar, Hanka Vulto-van Silfhout, Anneke T Wolfe, Lynne A Tifft, Cynthia J Zerfas, Patricia M Zambruno, Giovanna Kariminejad, Ariana Sabbagh-Kermani, Farahnaz Lee, Janice Tsokos, Maria G Lee, Chyi-Chia R Ferraz, Victor da Silva, Eduarda Morgana Stevens, Cathy A Roche, Nathalie Bartsch, Oliver Farndon, Peter Bermejo-Sanchez, Eva Brooks, Brian P Maduro, Valerie Dallapiccola, Bruno Ramos, Feliciano J Chung, Hon-Yin Brian Le Caignec, Cédric Martins, Fabiana Jacyk, Witold K Mazzanti, Laura Brunner, Han G Bakkers, Jeroen Lin, Shuo Malicdan, May Christine V Boerkoel, Cornelius F Gahl, William A de Vries, Bert B A van Haelst, Mieke M Zenker, Martin Markello, Thomas C Producer: 20150925 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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