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	1.	First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. [electronic resource] by Gamerdinger, Ulrike Bosse, Kristin Eggermann, Thomas Kalscheuer, Vera Schwanitz, Gesa Engels, Hartmut Producer: 20060727 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). [electronic resource] by Zahn, Susanne Ehrbrecht, Antje Bosse, Kristin Kalscheuer, Vera Propping, Peter Schwanitz, Gesa Albrecht, Beate Engels, Hartmut Producer: 20060510 In: American journal of medical genetics. Part A vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema. [electronic resource] by Zechner, Ulrich Kohlschmidt, Nicolai Kempf, Olga Gebauer, Konstanze Haug, Karsten Engels, Hartmut Haaf, Thomas Bartsch, Oliver Producer: 20091113 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. [electronic resource] by Engels, Hartmut Bosse, Kristin Ehrbrecht, Antje Zahn, Susanne Hoischen, Alexander Propping, Peter Bindl, Lutz Reutter, Heiko Producer: 20030131 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)
	5.	Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation. [electronic resource] by Wohlleber, Eva Kirchhoff, Maria Zink, Alexander M Kreiss-Nachtsheim, Martina Küchler, Alma Jepsen, Birgit Kjaergaard, Susanne Engels, Hartmut Producer: 20110614 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. [electronic resource] by Reutter, Heiko Hoischen, Alexander Ludwig, Michael Stein, Raimund Radlwimmer, Bernhard Engels, Hartmut Wolffenbuttel, Katja P Weber, Ruthild G Producer: 20071004 In: BJU international vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2. [electronic resource] by Gu, Wenli Schlichthörl, Günter Hirsch, Jochen R Engels, Hartmut Karschin, Christine Karschin, Andreas Derst, Christian Steinlein, Ortrud K Daut, Jürgen Producer: 20020620 In: The Journal of physiology vol. 539 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. [electronic resource] by Vasileiou, Georgia Ekici, Arif B Uebe, Steffen Zweier, Christiane Hoyer, Juliane Engels, Hartmut Behrens, Jürgen Reis, André Hadjihannas, Michel V Producer: 20151208 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)
	9.	Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. [electronic resource] by von Bubnoff, Dagmar Kreiss-Nachtsheim, Martina Novak, Natalija Engels, Eva Engels, Hartmut Behrend, Claudia Propping, Peter de la Salle, Henri Bieber, Thomas Producer: 20040423 In: American journal of medical genetics. Part A vol. 126A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Cantú syndrome resulting from activating mutation in the KCNJ8 gene. [electronic resource] by Cooper, Paige E Reutter, Heiko Woelfle, Joachim Engels, Hartmut Grange, Dorothy K van Haaften, Gijs van Bon, Bregje W Hoischen, Alexander Nichols, Colin G Producer: 20150123 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. [electronic resource] by Kuechler, Alma Buysse, Karen Clayton-Smith, Jill Le Caignec, Cédric David, Albert Engels, Hartmut Kohlhase, Jürgen Mari, Francesca Mortier, Geert Renieri, Alessandra Wieczorek, Dagmar Producer: 20111123 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions. [electronic resource] by Krutzke, Sophia K Engels, Hartmut Hofmann, Andrea Schumann, Madita M Cremer, Kirsten Zink, Alexander M Hilger, Alina Ludwig, Michael Gembruch, Ulrich Reutter, Heiko Merz, Waltraut M Producer: 20161011 In: Birth defects research. Part A, Clinical and molecular teratology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. [electronic resource] by Brenk, Christian H Prott, Eva-Christina Trost, Detlef Hoischen, Alexander Walldorf, Constanze Radlwimmer, Bernhard Wieczorek, Dagmar Propping, Peter Gillessen-Kaesbach, Gabriele Weber, Ruthild G Engels, Hartmut Producer: 20070329 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. [electronic resource] by Brockschmidt, Antje Todt, Unda Ryu, Soojin Hoischen, Alexander Landwehr, Christina Birnbaum, Stefanie Frenck, Wilhelm Radlwimmer, Bernhard Lichter, Peter Engels, Hartmut Driever, Wolfgang Kubisch, Christian Weber, Ruthild G Producer: 20071105 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. [electronic resource] by Schäfgen, Johanna Cremer, Kirsten Becker, Jessica Wieland, Thomas Zink, Alexander M Kim, Sarah Windheuser, Isabelle C Kreiß, Martina Aretz, Stefan Strom, Tim M Wieczorek, Dagmar Engels, Hartmut 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)
	16.	Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. [electronic resource] by Classen, Carl Friedrich Riehmer, Vera Landwehr, Christina Kosfeld, Anne Heilmann, Stefanie Scholz, Caroline Kabisch, Sarah Engels, Hartmut Tierling, Sascha Zivicnjak, Miroslav Schacherer, Frank Haffner, Dieter Weber, Ruthild G Producer: 20130812 In: Human genetics vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. [electronic resource] by Engels, Hartmut Ehrbrecht, Antje Zahn, Susanne Bosse, Kristin Vrolijk, Hans White, Stefan Kalscheuer, Vera Hoovers, Jan M N Schwanitz, Gesa Propping, Peter Tanke, Hans J Wiegant, Joop Raap, Anton K Producer: 20040617 In: European journal of human genetics : EJHG vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. [electronic resource] by Engels, Hartmut Eggermann, Thomas Caliebe, Almut Jelska, Anna Schubert, Regine Schüler, Herdit M Panasiuk, Barbara Zaremba, Jacek Latos-Bieleńska, Anna Jakubowski, Lucjusz Zerres, Klaus P Schwanitz, Gesa Midro, Alina T Producer: 20081112 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)
	19.	Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. [electronic resource] by Redler, Silke Strom, Tim M Wieland, Thomas Cremer, Kirsten Engels, Hartmut Distelmaier, Felix Schaper, Jörg Küchler, Alma Lemke, Johannes R Jeschke, Stephanie Schreyer, Nicole Sticht, Heinrich Koch, Margarete Lüdecke, Hermann-Josef Wieczorek, Dagmar Producer: 20170928 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. [electronic resource] by Engels, Hartmut Wohlleber, Eva Zink, Alexander Hoyer, Juliane Ludwig, Kerstin U Brockschmidt, Felix F Wieczorek, Dagmar Moog, Ute Hellmann-Mersch, Birgit Weber, Ruthild G Willatt, Lionel Kreiss-Nachtsheim, Martina Firth, Helen V Rauch, Anita Producer: 20100120 In: European journal of human genetics : EJHG vol. 17 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 46 results.