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	1.	Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype. [electronic resource] by Rittinger, Olaf Krabichler, Birgit Kronberger, Gabriela Kotzot, Dieter Producer: 20160913 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. [electronic resource] by Nampoothiri, Sheela Kuthiroly, Shwetha Fauth, Christine Krabichler, Birgit Attie-Bitach, Tania Hennekam, Raoul C Producer: 20120118 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)
	3.	Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. [electronic resource] by Laccone, Franco Schoner, Katharina Krabichler, Birgit Kluge, Britta Schwerdtfeger, Robin Schulze, Bernt Zschocke, Johannes Rehder, Helga Producer: 20120214 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A survey of tools for variant analysis of next-generation genome sequencing data. [electronic resource] by Pabinger, Stephan Dander, Andreas Fischer, Maria Snajder, Rene Sperk, Michael Efremova, Mirjana Krabichler, Birgit Speicher, Michael R Zschocke, Johannes Trajanoski, Zlatko Producer: 20150219 In: Briefings in bioinformatics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. [electronic resource] by Unterberger, Iris Dobesberger, Judith Schober, Harald Krabichler, Birgit Lamina, Claudia Schatz, Ulrich Zschocke, Johannes Luef, Gerhard Kotzot, Dieter Fauth, Christine Producer: 20200206 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22. [electronic resource] by Blassnig-Ezeh, Anya Bandelier, Claude Frühmesser, Anne Revencu, Nicole Krabichler, Birgit Beauloye, Véronique Ravoet, Marie Fauth, Christine Zschocke, Johannes Simma, Burkhard Kotzot, Dieter Producer: 20140702 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	SYNE1-ataxia: Novel genotypic and phenotypic findings. [electronic resource] by Indelicato, Elisabetta Nachbauer, Wolfgang Fauth, Christine Krabichler, Birgit Schossig, Anna Eigentler, Andreas Dichtl, Wolfgang Wenning, Gregor Wagner, Michaela Fanciulli, Alessandra Janecke, Andreas Boesch, Sylvia Producer: 20200428 In: Parkinsonism & related disorders vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. [electronic resource] by Krabichler, Birgit Rostasy, Kevin Baumann, Matthias Karall, Daniela Scholl-Bürgi, Sabine Schwarzer, Christoph Gautsch, Kurt Spreiz, Ana Kotzot, Dieter Zschocke, Johannes Fauth, Christine Haberlandt, Edda Producer: 20120822 In: Annals of human genetics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. [electronic resource] by Baumann, Matthias Steichen-Gersdorf, Elisabeth Krabichler, Birgit Petersen, Britt-Sabina Weber, Ulrike Schmidt, Wolfgang M Zschocke, Johannes Müller, Thomas Bittner, Reginald E Janecke, Andreas R Producer: 20170705 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)
	10.	MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. [electronic resource] by Baumann, Matthias Schreiber, Herbert Schlotter-Weigel, Beate Löscher, Wolfgang N Stucka, Rolf Karall, Daniela Strom, Tim M Bauer, Peter Krabichler, Birgit Fauth, Christine Glaeser, Dieter Senderek, Jan Producer: 20200211 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. [electronic resource] by Dündar, Munis Müller, Thomas Zhang, Qi Pan, Jing Steinmann, Beat Vodopiutz, Julia Gruber, Robert Sonoda, Tohru Krabichler, Birgit Utermann, Gerd Baenziger, Jacques U Zhang, Lijuan Janecke, Andreas R Producer: 20100114 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. [electronic resource] by Baas, Annette F Gabbett, Michael Rimac, Milan Kansikas, Minttu Raphael, Martine Nievelstein, Rutger Aj Nicholls, Wayne Offerhaus, Johan Bodmer, Danielle Wernstedt, Annekatrin Krabichler, Birgit Strasser, Ulrich Nyström, Minna Zschocke, Johannes Robertson, Stephen P van Haelst, Mieke M Wimmer, Katharina Producer: 20130520 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. [electronic resource] by Janecke, Andreas R Li, Ben Boehm, Manfred Krabichler, Birgit Rohrbach, Marianne Müller, Thomas Fuchs, Irene Golas, Gretchen Katagiri, Yasuhiro Ziegler, Shira G Gahl, William A Wilnai, Yael Zoppi, Nicoletta Geller, Herbert M Giunta, Cecilia Slavotinek, Anne Steinmann, Beat Producer: 20161013 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. [electronic resource] by Schossig, Anna Bloch-Zupan, Agnès Lussi, Adrian Wolf, Nicole I Raskin, Salmo Cohen, Monika Giuliano, Fabienne Jurgens, Julie Krabichler, Birgit Koolen, David A de Macena Sobreira, Nara Lygia Maurer, Elisabeth Muller-Bolla, Michèle Penzien, Johann Zschocke, Johannes Kapferer-Seebacher, Ines Producer: 20171101 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. [electronic resource] by Lima Cunha, Dulce Alakloby, Omar Mohammed Gruber, Robert Kakar, Naseebullah Ahmad, Jamil Alawbathani, Salem Plank, Roswitha Eckl, Katja Krabichler, Birgit Altmüller, Janine Nürnberg, Peter Zschocke, Johannes Borck, Guntram Schmuth, Matthias Alabdulkareem, Adnan S Abdulaziz Alnutaifi, Kholood Hennies, Hans Christian Producer: 20190508 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. [electronic resource] by Lindert, Uschi Cabral, Wayne A Ausavarat, Surasawadee Tongkobpetch, Siraprapa Ludin, Katja Barnes, Aileen M Yeetong, Patra Weis, Maryann Krabichler, Birgit Srichomthong, Chalurmpon Makareeva, Elena N Janecke, Andreas R Leikin, Sergey Röthlisberger, Benno Rohrbach, Marianne Kennerknecht, Ingo Eyre, David R Suphapeetiporn, Kanya Giunta, Cecilia Marini, Joan C Shotelersuk, Vorasuk Producer: 20180822 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. [electronic resource] by Heinz-Erian, Peter Müller, Thomas Krabichler, Birgit Schranz, Melanie Becker, Christian Rüschendorf, Franz Nürnberg, Peter Rossier, Bernard Vujic, Mihailo Booth, Ian W Holmberg, Christer Wijmenga, Cisca Grigelioniene, Giedre Kneepkens, C M Frank Rosipal, Stefan Mistrik, Martin Kappler, Matthias Michaud, Laurent Dóczy, Ludwig-Christoph Siu, Victoria Mok Krantz, Marie Zoller, Heinz Utermann, Gerd Janecke, Andreas R Producer: 20090323 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. [electronic resource] by Baumann, Matthias Giunta, Cecilia Krabichler, Birgit Rüschendorf, Franz Zoppi, Nicoletta Colombi, Marina Bittner, Reginald E Quijano-Roy, Susana Muntoni, Francesco Cirak, Sebahattin Schreiber, Gudrun Zou, Yaqun Hu, Ying Romero, Norma Beatriz Carlier, Robert Yves Amberger, Albert Deutschmann, Andrea Straub, Volker Rohrbach, Marianne Steinmann, Beat Rostásy, Kevin Karall, Daniela Bönnemann, Carsten G Zschocke, Johannes Fauth, Christine Producer: 20120619 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)
	19.	PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. [electronic resource] by Alhaddad, Bader Schossig, Anna Haack, Tobias B Kovács-Nagy, Reka Braunisch, Matthias C Makowski, Christine Senderek, Jan Vill, Katharina Müller-Felber, Wolfgang Strom, Tim M Krabichler, Birgit Freisinger, Peter Deshpande, Charu Polster, Tilman Wolf, Nicole I Desguerre, Isabelle Wörmann, Friedrich Rötig, Agnès Ahting, Uwe Kopajtich, Robert Prokisch, Holger Meitinger, Thomas Feichtinger, René G Mayr, Johannes A Jungbluth, Heinz Hubmann, Michael Zschocke, Johannes Distelmaier, Felix Koch, Johannes Producer: 20191022 In: Neuropediatrics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. [electronic resource] by Acuna-Hidalgo, Rocio Schanze, Denny Kariminejad, Ariana Nordgren, Ann Kariminejad, Mohamad Hasan Conner, Peter Grigelioniene, Giedre Nilsson, Daniel Nordenskjöld, Magnus Wedell, Anna Freyer, Christoph Wredenberg, Anna Wieczorek, Dagmar Gillessen-Kaesbach, Gabriele Kayserili, Hülya Elcioglu, Nursel Ghaderi-Sohi, Siavash Goodarzi, Payman Setayesh, Hamidreza van de Vorst, Maartje Steehouwer, Marloes Pfundt, Rolph Krabichler, Birgit Curry, Cynthia MacKenzie, Malcolm G Boycott, Kym M Gilissen, Christian Janecke, Andreas R Hoischen, Alexander Zenker, Martin Producer: 20141030 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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