Your search returned 19 results.

Results
	1.	Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. [electronic resource] by Seifert, Wenke Kühnisch, Jirko Tüysüz, Beyhan Specker, Christof Brouwers, Ad Horn, Denise Producer: 20120709 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. [electronic resource] by Seifert, Wenke Kühnisch, Jirko Maritzen, Tanja Horn, Denise Haucke, Volker Hennies, Hans Christian Producer: 20111215 In: The Journal of biological chemistry vol. 286 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. [electronic resource] by Brinckmann, Anja Mischung, Claudia Bässmann, Ingelore Kühnisch, Jirko Schuelke, Markus Tinschert, Sigrid Nürnberg, Peter Producer: 20080220 In: Electrophoresis vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. [electronic resource] by Kolanczyk, Mateusz Kühnisch, Jirko Kossler, Nadine Osswald, Monika Stumpp, Sabine Thurisch, Boris Kornak, Uwe Mundlos, Stefan Producer: 20080911 In: BMC medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. [electronic resource] by Seifert, Wenke Kühnisch, Jirko Maritzen, Tanja Lommatzsch, Stefanie Hennies, Hans Christian Bachmann, Sebastian Horn, Denise Haucke, Volker Producer: 20150505 In: The Journal of biological chemistry vol. 290 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. [electronic resource] by Kühnisch, Jirko Seto, Jong Lange, Claudia Stumpp, Sabine Kobus, Karolina Grohmann, Julia Elefteriou, Florent Fratzl, Peter Mundlos, Stefan Kolanczyk, Mateusz Producer: 20150330 In: Bone vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. [electronic resource] by Seifert, Wenke Posor, York Schu, Peter Stenbeck, Gudrun Mundlos, Stefan Klaassen, Sabine Nürnberg, Peter Haucke, Volker Kornak, Uwe Kühnisch, Jirko Producer: 20170823 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells. [electronic resource] by Geissler, Sven Textor, Martin Kühnisch, Jirko Könnig, Delia Klein, Oliver Ode, Andrea Pfitzner, Tilman Adjaye, James Kasper, Grit Duda, Georg N Producer: 20130627 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton. [electronic resource] by Kasper, Grit Mao, Lei Geissler, Sven Draycheva, Albena Trippens, Jessica Kühnisch, Jirko Tschirschmann, Miriam Kaspar, Katharina Perka, Carsten Duda, Georg N Klose, Joachim Producer: 20090909 In: Stem cells (Dayton, Ohio) vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia. [electronic resource] by Gupta, Sapna Kühnisch, Jirko Mustafa, Aladdin Lhotak, Sarka Schlachterman, Alexander Slifker, Michael J Klein-Szanto, Andres High, Katherine A Austin, Richard C Kruger, Warren D Producer: 20090401 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Neurofibromin (Nf1) is required for skeletal muscle development. [electronic resource] by Kossler, Nadine Stricker, Sigmar Rödelsperger, Christian Robinson, Peter N Kim, Johnny Dietrich, Carola Osswald, Monika Kühnisch, Jirko Stevenson, David A Braun, Thomas Mundlos, Stefan Kolanczyk, Mateusz Producer: 20111011 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Multiple roles for neurofibromin in skeletal development and growth. [electronic resource] by Kolanczyk, Mateusz Kossler, Nadine Kühnisch, Jirko Lavitas, Liron Stricker, Sigmar Wilkening, Ulrich Manjubala, Inderchand Fratzl, Peter Spörle, Ralf Herrmann, Bernhard G Parada, Luis F Kornak, Uwe Mundlos, Stefan Producer: 20070731 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	MIA is a potential biomarker for tumour load in neurofibromatosis type 1. [electronic resource] by Kolanczyk, Mateusz Mautner, Victor Kossler, Nadine Nguyen, Rosa Kühnisch, Jirko Zemojtel, Tomasz Jamsheer, Aleksander Wegener, Eike Thurisch, Boris Tinschert, Sigrid Holtkamp, Nikola Park, Su-Jin Birch, Patricia Kendler, David Harder, Anja Mundlos, Stefan Kluwe, Lan Producer: 20111107 In: BMC medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. [electronic resource] by Kobus, Karolina Hartl, Daniela Ott, Claus Eric Osswald, Monika Huebner, Angela von der Hagen, Maja Emmerich, Denise Kühnisch, Jirko Morreau, Hans Hes, Frederik J Mautner, Victor F Harder, Anja Tinschert, Sigrid Mundlos, Stefan Kolanczyk, Mateusz Producer: 20160120 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. [electronic resource] by Emmerich, Denise Zemojtel, Tomasz Hecht, Jochen Krawitz, Peter Spielmann, Malte Kühnisch, Jirko Kobus, Karolina Osswald, Monika Heinrich, Verena Berlien, Peter Müller, Ute Mautner, Victor-F Wimmer, Katharina Robinson, Peter N Vingron, Martin Tinschert, Sigrid Mundlos, Stefan Kolanczyk, Mateusz Producer: 20160203 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. [electronic resource] by Seifert, Wenke Holder-Espinasse, Muriel Kühnisch, Jirko Kahrizi, Kimia Tzschach, Andreas Garshasbi, Masoud Najmabadi, Hossein Walter Kuss, Andreas Kress, Wolfram Laureys, Geneviève Loeys, Bart Brilstra, Eva Mancini, Grazia M S Dollfus, Hélène Dahan, Karin Apse, Kira Hennies, Hans Christian Horn, Denise Producer: 20090410 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. [electronic resource] by Kühnisch, Jirko Seto, Jong Lange, Claudia Schrof, Susanne Stumpp, Sabine Kobus, Karolina Grohmann, Julia Kossler, Nadine Varga, Peter Osswald, Monika Emmerich, Denise Tinschert, Sigrid Thielemann, Falk Duda, Georg Seifert, Wenke El Khassawna, Thaqif Stevenson, David A Elefteriou, Florent Kornak, Uwe Raum, Kay Fratzl, Peter Mundlos, Stefan Kolanczyk, Mateusz Producer: 20141029 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. [electronic resource] by Morava, Eva Kühnisch, Jirko Drijvers, Jefte M Robben, Joris H Cremers, Cor van Setten, Petra Branten, Amanda Stumpp, Sabine de Jong, Alphons Voesenek, Krysta Vermeer, Sascha Heister, Angelien Claahsen-van der Grinten, Hedi L O'Neill, Charles W Willemsen, Michèl A Lefeber, Dirk Deen, Peter M T Kornak, Uwe Kremer, Hannie Wevers, Ron A Producer: 20110204 In: The Journal of clinical endocrinology and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. [electronic resource] by Hennies, Hans Christian Kornak, Uwe Zhang, Haikuo Egerer, Johannes Zhang, Xin Seifert, Wenke Kühnisch, Jirko Budde, Birgit Nätebus, Marc Brancati, Francesco Wilcox, William R Müller, Dietmar Kaplan, Paige B Rajab, Anna Zampino, Giuseppe Fodale, Valentina Dallapiccola, Bruno Newman, William Metcalfe, Kay Clayton-Smith, Jill Tassabehji, May Steinmann, Beat Barr, Francis A Nürnberg, Peter Wieacker, Peter Mundlos, Stefan Producer: 20081216 In: Nature genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)