Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound
Kroisel, Peter Michael, MD, Häusler, Martin, MD, Klaritsch, Philipp, MD, Karpf, Eva, MD, Zebedin, Doris, MD, Tiran, Beate, MD, Pertl, Barbara, MD, Wagner, Klaus, Dr
Published in The Lancet (British edition) (06.05.2017)
Published in The Lancet (British edition) (06.05.2017)
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Journal Article
New mutations in the ATM gene and clinical data of 25 AT patients
Demuth, Ilja, Dutrannoy, Véronique, Marques, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, Varon, Raymonda
Published in Neurogenetics (01.11.2011)
Published in Neurogenetics (01.11.2011)
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Journal Article
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy
Kieninger, Sinja, Xiao, Ting, Weisschuh, Nicole, Kohl, Susanne, Rüther, Klaus, Kroisel, Peter Michael, Brockmann, Tobias, Knappe, Steffi, Kellner, Ulrich, Lagrèze, Wolf, Mazzola, Pascale, Haack, Tobias B, Wissinger, Bernd, Tonagel, Felix
Published in Journal of medical genetics (01.10.2022)
Published in Journal of medical genetics (01.10.2022)
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Journal Article
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing
Rath, Matthias, Spiegler, Stefanie, Strom, Tim M., Trenkler, Johannes, Kroisel, Peter Michael, Felbor, Ute
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
Spengler, Sabrina, MS, Begemann, Matthias, PhD, Ortiz Brüchle, Nadina, DVM, Baudis, Michael, Dr Med, Denecke, Bernd, PhD, Kroisel, Peter Michael, Oehl-Jaschkowitz, Barbara, Dr Med, Schulze, Bernd, Dr Med, Raabe-Meyer, Gisela, Dr Med, Spaich, Christiane, Dr Med, Blümel, Peter, Dr Med, Jauch, Anna, PhD, Moog, Ute, Dr Med, Zerres, Klaus, MD, Eggermann, Thomas, PhD
Published in The Journal of pediatrics (01.11.2012)
Published in The Journal of pediatrics (01.11.2012)
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Journal Article
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome
Beitzke, Markus, Enzinger, Christian, Windpassinger, Christian, Pfeifer, Dietmar, Fazekas, Franz, Woellner, Cristina, Grimbacher, Bodo, Kroisel, Peter Michael
Published in Journal of the neurological sciences (15.10.2011)
Published in Journal of the neurological sciences (15.10.2011)
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Journal Article
Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q
KROISEL, PETER MICHAEL, PETEK, ERWIN, WAGNER, KLAUS
Published in Journal of medical genetics (01.09.2000)
Published in Journal of medical genetics (01.09.2000)
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Journal Article
Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter)
Petek, E, Köstl, G, Rauter, L, Mutz, I, Wagner, K, Kroisel, P M
Published in Clinical dysmorphology (01.04.2001)
Published in Clinical dysmorphology (01.04.2001)
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Journal Article
Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH
Petek, E, Köstl, G, Mutz, I, Wagner, K, Kroisel, P M
Published in Clinical dysmorphology (01.01.2000)
Published in Clinical dysmorphology (01.01.2000)
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