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Author/Creator Hackmann, Karl

1. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities. (3rd September 2015)

Authors:
Mackenroth, Luisa; Hackmann, Karl; Beyer, Anke; Schallner, Jens; Novotna, Barbara; Klink, Barbara; Schröck, Evelin; Di Donato, Nataliya
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2800
Record Type:
Journal Article
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5. Duplication Xp11.22‐p14 in females: Does X‐inactivation help in assessing their significance?. (March 2015)

Authors:
Evers, Christina; Mitter, Diana; Strobl‐Wildemann, Gertrud; Haug, Ulrich; Hackmann, Karl; Maas, Bianca; Janssen, Johannes W. G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
553
Record Type:
Journal Article
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6. Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern. Issue 5 (31st March 2017)

Authors:
Podolska, Anna; Kobelt, Albrecht; Fuchs, Sigrid; Hackmann, Karl; Rump, Andreas; Schröck, Evelin; Kutsche, Kerstin; Di Donato, Nataliya
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1334
Record Type:
Journal Article
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7. Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. (9th March 2018)

Authors:
Hauke, Jan; Horvath, Judit; Groß, Eva; Gehrig, Andrea; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Arnold, Norbert; Faust, Ulrike; Sutter, Christian; Hentschel, Julia; Wang‐Gohrke, Shan; Smogavec, Mateja; Weber, Bernhard H. F.; Weber‐Lassalle, Nana; Weber‐Lassalle, Konstantin; Borde, Julika;...
Journal:
Cancer medicine
Issue:
Volume 7:Number 4(2018:Apr.)
Page Start:
1349
Record Type:
Journal Article
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8. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Issue 1 (January 2023)

Authors:
Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz,...
Journal:
Lancet oncology
Issue:
Volume 24:Issue 1(2023)
Page Start:
91
Record Type:
Journal Article
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9. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability. Issue 9 (3rd June 2016)

Authors:
Mackenroth, Luisa; Hackmann, Karl; Klink, Barbara; Weber, Julia Sara; Mayer, Brigitte; Schröck, Evelin; Tzschach, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2394
Record Type:
Journal Article
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10. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019)

Authors:
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1557
Record Type:
Journal Article
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