Your search returned 8 results.

Results
	1.	Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. [electronic resource] by Botzenhart, Elke Vester, Udo Schmidt, Christa Hesse, Albrecht Halber, Marc Wagner, Carsten Lang, Florian Hoyer, Peter Zerres, Klaus Eggermann, Thomas Producer: 20030225 In: Kidney international vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. [electronic resource] by Rudnik-Schöneborn, Sabine Botzenhart, Elke Eggermann, Thomas Senderek, Jan Schoser, Benedikt G H Schröder, Rolf Wehnert, Manfred Wirth, Brunhilde Zerres, Klaus Producer: 20080123 In: Neurogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. [electronic resource] by Vuorela, Pia Ala-Mello, Sirpa Saloranta, Carola Penttinen, Maila Pöyhönen, Minna Huoponen, Kirsi Borozdin, Wiktor Bausch, Birke Botzenhart, Elke M Wilhelm, Christian Kääriäinen, Helena Kohlhase, Jürgen Producer: 20080116 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. [electronic resource] by Borozdin, Wiktor Bravo Ferrer Acosta, Ana M Bamshad, Michael J Botzenhart, Elke M Froster, Ursula G Lemke, Johannes Schinzel, Albert Spranger, Stephanie McGaughran, Julie Wand, Dorothea Chrzanowska, Krystyna H Kohlhase, Jürgen Producer: 20061024 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations in TRPV4 cause an inherited arthropathy of hands and feet. [electronic resource] by Lamandé, Shireen R Yuan, Yuan Gresshoff, Irma L Rowley, Lynn Belluoccio, Daniele Kaluarachchi, Kumara Little, Christopher B Botzenhart, Elke Zerres, Klaus Amor, David J Cole, William G Savarirayan, Ravi McIntyre, Peter Bateman, John F Producer: 20111219 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. [electronic resource] by Botzenhart, Elke M Green, Andrew Ilyina, Helena König, Rainer Lowry, R Brian Lo, Ivan F M Shohat, Mordechai Burke, Leah McGaughran, Julie Chafai, Ronit Pierquin, Geneviève Michaelis, Ron C Whiteford, Margo L Simola, Kalle O J Rösler, Bernd Kohlhase, Jürgen Producer: 20060728 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. [electronic resource] by Botzenhart, Elke M Bartalini, Gabriella Blair, Edward Brady, Angela F Elmslie, Frances Chong, Karen L Christy, Katie Torres-Martinez, Wilfredo Danesino, Cesare Deardorff, Matthew A Fryns, Jean-Pierre Marlin, Sandrine Garcia-Minaur, Sixto Hellenbroich, Yorck Hay, Beverly N Penttinen, Maila Shashi, Vandana Terhal, Paulien Van Maldergem, Lionel Whiteford, Margo L Zackai, Elaine Kohlhase, Jürgen Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. [electronic resource] by Eisenberger, Tobias Neuhaus, Christine Khan, Arif O Decker, Christian Preising, Markus N Friedburg, Christoph Bieg, Anika Gliem, Martin Charbel Issa, Peter Holz, Frank G Baig, Shahid M Hellenbroich, Yorck Galvez, Alberto Platzer, Konrad Wollnik, Bernd Laddach, Nadja Ghaffari, Saeed Reza Rafati, Maryam Botzenhart, Elke Tinschert, Sigrid Börger, Doris Bohring, Axel Schreml, Julia Körtge-Jung, Stefani Schell-Apacik, Chayim Bakur, Khadijah Al-Aama, Jumana Y Neuhann, Teresa Herkenrath, Peter Nürnberg, Gudrun Nürnberg, Peter Davis, John S Gal, Andreas Bergmann, Carsten Lorenz, Birgit Bolz, Hanno J Producer: 20140903 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)