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	1.	Novel [electronic resource] by Bernstein, Ulrike Demuth, Stephanie Puk, Oliver Eichhorn, Birgit Schulz, Solveig Publication details: Molecular syndromology Jul 2019 In: Molecular syndromology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. [electronic resource] by Castanet, Mireille Mallya, Uma Agostini, Maura Schoenmakers, Erik Mitchell, Catherine Demuth, Stephanie Raymond, F Lucy Schwabe, John Gurnell, Mark Chatterjee, V Krishna Producer: 20100824 In: The Journal of clinical endocrinology and metabolism vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). [electronic resource] by Tzschach, Andreas Kelbova, Christina Weidensee, Sabine Peters, Hartmut Ropers, Hans-Hilger Ullmann, Reinhard Erdogan, Fikret Jurkatis, Jan Menzel, Corinna Kalscheuer, Vera Demuth, Stephanie Producer: 20080429 In: Ophthalmic genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. [electronic resource] by Robinson, Peter N Neumann, Luitgard M Demuth, Stephanie Enders, Herbert Jung, Ursula König, Rainer Mitulla, Beate Müller, Dietmar Muschke, Petra Pfeiffer, Lutz Prager, Bettina Somer, Mirja Tinschert, Sigrid Producer: 20050705 In: American journal of medical genetics. Part A vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. [electronic resource] by Indrieri, Alessia van Rahden, Vanessa Alexandra Tiranti, Valeria Morleo, Manuela Iaconis, Daniela Tammaro, Roberta D'Amato, Ilaria Conte, Ivan Maystadt, Isabelle Demuth, Stephanie Zvulunov, Alex Kutsche, Kerstin Zeviani, Massimo Franco, Brunella Producer: 20130114 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. [electronic resource] by Horn, Denise Wieczorek, Dagmar Metcalfe, Kay Barić, Ivo Paležac, Lidija Cuk, Mario Petković Ramadža, Danijela Krüger, Ulrike Demuth, Stephanie Heinritz, Wolfram Linden, Tobias Koenig, Jens Robinson, Peter N Krawitz, Peter Producer: 20150206 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. [electronic resource] by Horvath, Rita Czermin, Birgit Gulati, Sweena Demuth, Stephanie Houge, Gunnar Pyle, Angela Dineiger, Christine Blakely, Emma L Hassani, Adam Foley, Charlotte Brodhun, Michael Storm, Karin Kirschner, Janbernd Gorman, Grainne S Lochmüller, Hanns Holinski-Feder, Elke Taylor, Robert W Chinnery, Patrick F Producer: 20120228 In: Journal of neurology, neurosurgery, and psychiatry vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A mutation screen in patients with Kabuki syndrome. [electronic resource] by Li, Yun Bögershausen, Nina Alanay, Yasemin Simsek Kiper, Pelin Ozlem Plume, Nadine Keupp, Katharina Pohl, Esther Pawlik, Barbara Rachwalski, Martin Milz, Esther Thoenes, Michaela Albrecht, Beate Prott, Eva-Christina Lehmkühler, Margret Demuth, Stephanie Utine, Gülen Eda Boduroglu, Koray Frankenbusch, Katja Borck, Guntram Gillessen-Kaesbach, Gabriele Yigit, Gökhan Wieczorek, Dagmar Wollnik, Bernd Producer: 20120118 In: Human genetics vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. [electronic resource] by Traschütz, Andreas Schirinzi, Tommaso Laugwitz, Lucia Murray, Nathan H Bingman, Craig A Reich, Selina Kern, Jan Heinzmann, Anna Vasco, Gessica Bertini, Enrico Zanni, Ginevra Durr, Alexandra Magri, Stefania Taroni, Franco Malandrini, Alessandro Baets, Jonathan de Jonghe, Peter de Ridder, Willem Bereau, Matthieu Demuth, Stephanie Ganos, Christos Basak, A Nazli Hanagasi, Hasmet Kurul, Semra Hiz Bender, Benjamin Schöls, Ludger Grasshoff, Ute Klopstock, Thomas Horvath, Rita van de Warrenburg, Bart Burglen, Lydie Rougeot, Christelle Ewenczyk, Claire Koenig, Michel Santorelli, Filippo M Anheim, Mathieu Munhoz, Renato P Haack, Tobias Distelmaier, Felix Pagliarini, David J Puccio, Hélène Synofzik, Matthis Producer: 20201209 In: Annals of neurology vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. [electronic resource] by Martinelli, Simone Krumbach, Oliver H F Pantaleoni, Francesca Coppola, Simona Amin, Ehsan Pannone, Luca Nouri, Kazem Farina, Luciapia Dvorsky, Radovan Lepri, Francesca Buchholzer, Marcel Konopatzki, Raphael Walsh, Laurence Payne, Katelyn Pierpont, Mary Ella Vergano, Samantha Schrier Langley, Katherine G Larsen, Douglas Farwell, Kelly D Tang, Sha Mroske, Cameron Gallotta, Ivan Di Schiavi, Elia Della Monica, Matteo Lugli, Licia Rossi, Cesare Seri, Marco Cocchi, Guido Henderson, Lindsay Baskin, Berivan Alders, Mariëlle Mendoza-Londono, Roberto Dupuis, Lucie Nickerson, Deborah A Chong, Jessica X Meeks, Naomi Brown, Kathleen Causey, Tahnee Cho, Megan T Demuth, Stephanie Digilio, Maria Cristina Gelb, Bruce D Bamshad, Michael J Zenker, Martin Ahmadian, Mohammad Reza Hennekam, Raoul C Tartaglia, Marco Mirzaa, Ghayda M Producer: 20190701 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)