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	1.	GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. [electronic resource] by Kamphans, Tom Krawitz, Peter M Producer: 20130605 In: Bioinformatics (Oxford, England) vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data. [electronic resource] by Heinrich, Verena Kamphans, Tom Mundlos, Stefan Robinson, Peter N Krawitz, Peter M Producer: 20171122 In: Bioinformatics (Oxford, England) vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. [electronic resource] by Kamphans, Tom Sabri, Peggy Zhu, Na Heinrich, Verena Mundlos, Stefan Robinson, Peter N Parkhomchuk, Dmitri Krawitz, Peter M Producer: 20140305 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. [electronic resource] by Zhu, Na Heinrich, Verena Dickhaus, Thorsten Hecht, Jochen Robinson, Peter N Mundlos, Stefan Kamphans, Tom Krawitz, Peter M Producer: 20160606 In: Bioinformatics (Oxford, England) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. [electronic resource] by Heinrich, Verena Kamphans, Tom Stange, Jens Parkhomchuk, Dmitri Hecht, Jochen Dickhaus, Thorsten Robinson, Peter N Krawitz, Peter M Producer: 20140520 In: Genome medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. [electronic resource] by Murakami, Yoshiko Kanzawa, Noriyuki Saito, Kazunobu Krawitz, Peter M Mundlos, Stefan Robinson, Peter N Karadimitris, Anastasios Maeda, Yusuke Kinoshita, Taroh Producer: 20120425 In: The Journal of biological chemistry vol. 287 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. [electronic resource] by Zhao, Jin James Halvardson, Jonatan Knaus, Alexej Georgii-Hemming, Patrik Baeck, Peter Krawitz, Peter M Thuresson, Ann-Charlotte Feuk, Lars Producer: 20180510 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. [electronic resource] by Heinrich, Verena Stange, Jens Dickhaus, Thorsten Imkeller, Peter Krüger, Ulrike Bauer, Sebastian Mundlos, Stefan Robinson, Peter N Hecht, Jochen Krawitz, Peter M Producer: 20120529 In: Nucleic acids research vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. [electronic resource] by Krawitz, Peter M Murakami, Yoshiko Rieß, Angelika Hietala, Marja Krüger, Ulrike Zhu, Na Kinoshita, Taroh Mundlos, Stefan Hecht, Jochen Robinson, Peter N Horn, Denise Producer: 20130604 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. [electronic resource] by Pantel, Jean T Zhao, Max Mensah, Martin A Hajjir, Nurulhuda Hsieh, Tzung-Chien Hanani, Yair Fleischer, Nicole Kamphans, Tom Mundlos, Stefan Gurovich, Yaron Krawitz, Peter M Producer: 20191129 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. [electronic resource] by Krawitz, Peter M Schiska, Daniela Krüger, Ulrike Appelt, Sandra Heinrich, Verena Parkhomchuk, Dmitri Timmermann, Bernd Millan, Jose M Robinson, Peter N Mundlos, Stefan Hecht, Jochen Gross, Manfred Producer: 20141021 In: Molecular genetics & genomic medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Identifying facial phenotypes of genetic disorders using deep learning. [electronic resource] by Gurovich, Yaron Hanani, Yair Bar, Omri Nadav, Guy Fleischer, Nicole Gelbman, Dekel Basel-Salmon, Lina Krawitz, Peter M Kamphausen, Susanne B Zenker, Martin Bird, Lynne M Gripp, Karen W Producer: 20190510 In: Nature medicine vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. [electronic resource] by Knaus, Alexej Kortüm, Fanny Kleefstra, Tjitske Stray-Pedersen, Asbjørg Đukić, Dejan Murakami, Yoshiko Gerstner, Thorsten van Bokhoven, Hans Iqbal, Zafar Horn, Denise Kinoshita, Taroh Hempel, Maja Krawitz, Peter M Producer: 20200316 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. [electronic resource] by Krawitz, Peter M Höchsmann, Britta Murakami, Yoshiko Teubner, Britta Krüger, Ulrike Klopocki, Eva Neitzel, Heidemarie Hoellein, Alexander Schneider, Christina Parkhomchuk, Dmitri Hecht, Jochen Robinson, Peter N Mundlos, Stefan Kinoshita, Taroh Schrezenmeier, Hubert Producer: 20131107 In: Blood vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. [electronic resource] by Krawitz, Peter M Murakami, Yoshiko Hecht, Jochen Krüger, Ulrike Holder, Susan E Mortier, Geert R Delle Chiaie, Barbara De Baere, Elfride Thompson, Miles D Roscioli, Tony Kielbasa, Szymon Kinoshita, Taroh Mundlos, Stefan Robinson, Peter N Horn, Denise Producer: 20120920 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)
	16.	A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. [electronic resource] by Thompson, Miles D Knaus, Alexej A Barshop, Bruce A Caliebe, Almuth Muhle, Hiltrud Nguyen, Thi Tuyet Mai Baratang, Nissan V Kinoshita, Taroh Percy, Maire E Campeau, Philippe M Murakami, Yoshiko Cole, David E Krawitz, Peter M Mabry, C Charlton Producer: 20201231 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. [electronic resource] by Spielmann, Malte Brancati, Francesco Krawitz, Peter M Robinson, Peter N Ibrahim, Daniel M Franke, Martin Hecht, Jochen Lohan, Silke Dathe, Katarina Nardone, Anna Maria Ferrari, Paola Landi, Antonio Wittler, Lars Timmermann, Bernd Chan, Danny Mennen, Ulrich Klopocki, Eva Mundlos, Stefan Producer: 20130317 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)
	18.	Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. [electronic resource] by Knaus, Alexej Awaya, Tomonari Helbig, Ingo Afawi, Zaid Pendziwiat, Manuela Abu-Rachma, Jubran Thompson, Miles D Cole, David E Skinner, Steve Annese, Fran Canham, Natalie Schweiger, Michal R Robinson, Peter N Mundlos, Stefan Kinoshita, Taroh Munnich, Arnold Murakami, Yoshiko Horn, Denise Krawitz, Peter M Producer: 20171215 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. [electronic resource] by Marbach, Felix Rustad, Cecilie F Riess, Angelika Đukić, Dejan Hsieh, Tzung-Chien Jobani, Itamar Prescott, Trine Bevot, Andrea Erger, Florian Houge, Gunnar Redfors, Maria Altmueller, Janine Stokowy, Tomasz Gilissen, Christian Kubisch, Christian Scarano, Emanuela Mazzanti, Laura Fiskerstrand, Torunn Krawitz, Peter M Lessel, Davor Netzer, Christian Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. [electronic resource] by Höchsmann, Britta Murakami, Yoshiko Osato, Makiko Knaus, Alexej Kawamoto, Michi Inoue, Norimitsu Hirata, Tetsuya Murata, Shogo Anliker, Markus Eggermann, Thomas Jäger, Marten Floettmann, Ricarda Höllein, Alexander Murase, Sho Ueda, Yasutaka Nishimura, Jun-Ichi Kanakura, Yuzuru Kohara, Nobuo Schrezenmeier, Hubert Krawitz, Peter M Kinoshita, Taroh Producer: 20200622 In: The Journal of clinical investigation vol. 129 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 31 results.