A fascinating overview of the biology of fragile X syndrome
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Book Review
Phenotypic variability of a distinct deletion in McLeod syndrome
Miranda, Marcelo, Castiglioni, Claudia, Frey, Beat M., Hergersberg, Martin, Danek, Adrian, Jung, Hans H.
Published in Movement disorders (15.07.2007)
Published in Movement disorders (15.07.2007)
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Mcleod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
Jung, Hans H., Hergersberg, Martin, Kneifel, Stefan, Alkadhi, Hatem, Schiess, Regula, Weigell-Weber, Maike, Daniels, Geoff, Kollias, Spyros, Hess, Klaus
Published in Annals of neurology (01.03.2001)
Published in Annals of neurology (01.03.2001)
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Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
Kotzot, D, Schmitt, S, Bernasconi, F, Robinson, W P, Lurie, I W, Ilyina, H, Méhes, K, Hamel, B C, Otten, B J, Hergersberg, M
Published in Human molecular genetics (01.04.1995)
Published in Human molecular genetics (01.04.1995)
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Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients
Schneider-Yin, Xiaoye, Hergersberg, Martin, Goldgar, David E., Rüfenacht, Urszula B., Schuurmans, Macé M., Puy, Hervé, Deybach, Jean-Charles, Minder, Elisabeth I.
Published in Human heredity (01.01.2002)
Published in Human heredity (01.01.2002)
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Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH
Blattner, Ariane, Brunner-Agten, Saskia, Ludin, Katja, Hergersberg, Martin, Herklotz, Roberto, Huber, Andreas R., Röthlisberger, Benno
Published in Blood cells, molecules, & diseases (01.06.2013)
Published in Blood cells, molecules, & diseases (01.06.2013)
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X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Bader, Ingrid, Brandau, Oliver, Achatz, Helene, Apfelstedt-Sylla, Eckart, Hergersberg, Martin, Lorenz, Birgit, Wissinger, Bernd, Wittwer, Barbel, Rudolph, Gunther, Meindl, Alfons, Meitinger, Thomas
Published in Investigative ophthalmology & visual science (01.04.2003)
Published in Investigative ophthalmology & visual science (01.04.2003)
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Rare SOX13 Sequence Variations in Pediatric Idiopathic Thrombocytopenic Purpura Patients
Rischewski, Johannes R, Wyss, Johanna, Stocker, Sylvie, Hergersberg, Martin, Huber, Andreas R, Kühne, Thomas
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon
Brunner-Agten, Saskia, Hergersberg, Martin, Herklotz, Roberto, Hirt, Andreas, Huber, Andreas R
Published in Annals of hematology (01.05.2010)
Published in Annals of hematology (01.05.2010)
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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Buckley, Patrick G., Mantripragada, Kiran K., Benetkiewicz, Magdalena, Tapia-Páez, Isabel, Diaz de Ståhl, Teresita, Rosenquist, Magnus, Ali, Haider, Jarbo, Caroline, de Bustos, Cecilía, Hirvelä, Carina, Sinder Wilén, Birgitta, Fransson, Ingegerd, Thyr, Charlotte, Johnsson, Britt-Inger, Bruder, Carl E.G., Menzel, Uwe, Hergersberg, Martin, Mandahl, Nils, Blennow, Elisabeth, Wedell, Anna, Beare, David M., Collins, John E., Dunham, Ian, Albertson, Donna, Pinkel, Daniel, Bastian, Boris C., Faruqi, A. Fawad, Lasken, Roger S., Ichimura, Koichi, Collins, V. Peter, Dumanski, Jan P.
Published in Human molecular genetics (01.12.2002)
Published in Human molecular genetics (01.12.2002)
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
BRUDER, Carl E. G, HIRVELÄ, Carina, ZUCMAN-ROSSI, Jessica, HERGERSBERG, Martin, BOLTSHAUSER, Eugene, PAPI, Laura, ROULEAU, Guy A, POPTODOROV, George, JORDANOVA, Albena, RASK-ANDERSEN, Helge, KLUWE, Lan, MAUTNER, Victor, TAPIA-PAEZ, Isabel, SAINIO, Markku, HUNG, Gene, MATHIESEN, Tiit, MÖLLER, Claes, PULST, Stefan M, HARDER, Henrik, HEIBERG, Arvid, HONDA, Mariko, NIIMURA, Michihito, SAHLEN, Sigrid, FRANSSON, Ingegerd, BLENNOW, Elisabeth, ALBERTSON, Donna G, PINKEL, Daniel, DUMANSKI, Jan P, SEGRAVES, Richard, HAMILTON, Greg, XIAO XIAO ZHANG, EVANS, D. Gareth, WALLACE, Andrew J, BASER, Michael E
Published in Human molecular genetics (01.02.2001)
Published in Human molecular genetics (01.02.2001)
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dHPLC as a Rapid and Reliable Screening Method for A-Thalassemia Screening
Bernasconi, Luca, Herklotz, Roberto, Hergersberg, Martin, Huber, Andreas
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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Cloned transcription factor MTF‐1 activates the mouse metallothionein I promoter
Radtke, F., Heuchel, R., Georgiev, O., Hergersberg, M., Gariglio, M., Dembic, Z., Schaffner, W.
Published in The EMBO journal (01.04.1993)
Published in The EMBO journal (01.04.1993)
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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina
Wutz, Krisztina, Sauer, Christian, Zrenner, Eberhart, Lorenz, Birgit, Alitalo, Tiina, Broghammer, Martina, Hergersberg, Martin, de la Chapelle, Albert, Weber, Bernhard H F, Wissinger, Bernd, Meindl, Alfons, Pusch, Carsten M
Published in European journal of human genetics : EJHG (01.08.2002)
Published in European journal of human genetics : EJHG (01.08.2002)
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A New Stable α Chain Variant: Hb Basel [α14(A12)Trp→Leu (α1)]
Hergersberg, Martin, Brunner-Agten, Saskia, Kühne, Thomas, Paulussen, Michael, Huber, Andreas R.
Published in Hemoglobin (01.06.2010)
Published in Hemoglobin (01.06.2010)
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A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy
Pajic, Bojan, Weigell-Weber, Maike, Schipper, Isaak, Kryenbühl, Christoph, Büchi, Ernst R, Spiegel, Roland, Hergersberg, Martin
Published in Retina (Philadelphia, Pa.) (01.10.2006)
Published in Retina (Philadelphia, Pa.) (01.10.2006)
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Journal Article
McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement
Jung, Hans H., Hergersberg, Martin, Vogt, Marco, Pahnke, Jens, Treyer, Valerie, Röthlisberger, Benno, Kollias, Spyros S., Russo, David, Frey, Beat M.
Published in Transfusion (Philadelphia, Pa.) (01.07.2003)
Published in Transfusion (Philadelphia, Pa.) (01.07.2003)
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PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency
Sedano, Isabel Boo, Röthlisberger, Benno, Délèze, Guy, Ottiger, Cornelia, Panchard, Marc‐Alain, Spahr, André, Hergersberg, Martin, Bürgi, Willi, Huber, Andreas
Published in British journal of haematology (01.11.2004)
Published in British journal of haematology (01.11.2004)
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