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| 1. |
Hofmann, Christoph: Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex / Christoph Hofmann, Steffen Syrbe, Joachim Hebe, Jannis Kreft, Sebastian Stark, Till Milde, Mirko Völ… , 2024. - 6 S. : Illustrationen, Diagramme
In: American journal of medical genetics, ISSN 1552-4833. 194(2024), 5, Artikel-ID e63508, Seite 1-6
DOI: 10.1002/ajmg.a.63508
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| 2. |
Schwaibold, Eva: A boy with Silver-Russell syndrome and Sotos syndrome / Eva M.C. Schwaibold, Jasmin Beygo, Katharina Obeid, Anna Jauch, Katrin Hinderhofer, Ute Moog, 2021. - 6 S.
In: American journal of medical genetics, ISSN 1552-4833. 185(2021), 2, Seite 549-554
DOI: 10.1002/ajmg.a.61967
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| 3. |
Gieldon, Laura: Germ cell mosaicism for AUTS2 exon 6 deletion / Laura Gieldon, Anna Jauch, Katharina Obeid, Lilian Kaufmann, Katrin Hinderhofer, Ulrich Haug, Ute Mo… , 12 February 2021. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 185(2021), 4, Seite 1261-1265
DOI: 10.1002/ajmg.a.62091
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| 4. |
Assaf, Elio: Singleton-Merten syndrome : a rare cause of femoral head necrosis / Elio Assaf, Mohamad Bdeir, Elisabeth Mohs, Franz-Joseph Dally, Sascha Gravius, Cleo-Aron Weis, Ali D… , 30 June 2021. - 6 S.
In: American journal of medical genetics, ISSN 1552-4833. 185(2021), 10 vom: Okt., Seite 3170-3175
DOI: 10.1002/ajmg.a.62395
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| 5. |
Rech, Megan E.: Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations / Megan E. Rech, John M. McCarthy, Chun-An Chen, Jane C. Edmond, Veeral S. Shah, Daniëlle G.M. Bosch, … , 10 April 2020. - 12 S.
In: American journal of medical genetics, ISSN 1552-4833. 182(2020), 6, Seite 1426-1437
DOI: 10.1002/ajmg.a.61580
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| 6. |
Ripperger, Tim: Childhood cancer predisposition syndromes : a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology / Tim Ripperger, Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calami… , 2017. - 21 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 4, Seite 1017-1037
DOI: 10.1002/ajmg.a.38142
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| 7. |
Dikow, Nicola: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome / Nicola Dikow, Martin Granzow, Luitgard M. Graul‐Neumann, Stephanie Karch, Katrin Hinderhofer, Nagara… . - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 5, S. 1369-1373
DOI: 10.1002/ajmg.a.38164
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| 8. |
Evers, Christina: Diagnosis of CoPAN by whole exome sequencing : waking up a sleeping tiger's eye / Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer… . - 9 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 7, S. 1878-1886
DOI: 10.1002/ajmg.a.38252
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| 9. |
Evers, Christina: Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy / Christina Evers, Lilian Kaufmann, Angelika Seitz, Nagarajan Paramasivam, Martin Granzow, Stephanie K… . - 8 S.
In: American journal of medical genetics, ISSN 1552-4833. 170(2016), 6, S. 1502-1509
DOI: 10.1002/ajmg.a.37632
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| 10. |
Kehrer, Martin: Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies / Martin Kehrer, Karin Schäferhoff, Michael Bonin, Anna Jauch, Andrea Bevot, and Andreas Tzschach, 10 June 2015. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 167(2015), 10, Seite 2406-2410
DOI: 10.1002/ajmg.a.37178
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| 11. |
Evers, Christina: Duplication Xp11.22-p14 in females : does X-inactivation help in assessing their significance? / Christina Evers, Diana Mitter, Gertrud Strobl‐Wildemann, Ulrich Haug, Karl Hackmann, Bianca Maas, Jo… , 18 February 2015. - 10 S.
In: American journal of medical genetics, ISSN 1552-4833. 167(2015), 3, Seite 553-562
DOI: 10.1002/ajmg.a.36897
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| 12. |
Aslan, Deniz: Oculoectodermal syndrome : report of a new case with a broad clinical spectrum / Deniz Aslan, Rustu Fikret Akata, Julia Schröder, Rudolf Happle, Ute Moog, and Oliver Bartsch, 22 September 2014. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 11, Seite 2947-2951
DOI: 10.1002/ajmg.a.36727
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| 13. |
Rump, Patrick: Central 22q11.2 deletions / Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Ve… , 14 August 2014. - 17 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 11, Seite 2707-2723
DOI: 10.1002/ajmg.a.36711
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| 14. |
Dikow, Nicola: 3p25.3 Microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior / Nicola Dikow, Bianca Maas, Stephanie Karch, Martin Granzow, Johannes W. G. Janssen, Anna Jauch, Katr… . - 8 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 12, S. 3061-3068
DOI: 10.1002/ajmg.a.36761
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| 15. |
Evers, Christina: Mosaic deletion of EXOC6B : further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability / Christina Evers, Bianca Maas, Karin A. Koch, Anna Jauch, Johannes W.G. Janssen, Christian Sutter, Mi… . - 7 S.
In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 12, S. 3088-3094
DOI: 10.1002/ajmg.a.36770
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| 16. |
Bode, Harald: Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation / Harald Bode, Christoph Galm, Helmut Hummler, Christopher Teller, Dorothea Haas, and Martin Gencik, 12 July 2013. - 4 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 9, Seite 2385-2388
DOI: 10.1002/ajmg.a.35985
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| 17. |
Gazou, Anastasia: Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability / Anastasia Gazou, Angelika Riess, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Anna Jauch, Olaf R… , 12 March 2013. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 4, Seite 860-864
DOI: 10.1002/ajmg.a.35778
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| 18. |
Haas, Dorothea: Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome / Dorothea Haas, Gisela Haege, Georg F. Hoffmann, and Peter Burgard, 26 March 2013. - 4 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 5, Seite 1008-1011
DOI: 10.1002/ajmg.a.35837
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| 19. |
Dikow, Nicola: The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : is it really a reversed sotos syndrome? / Nicola Dikow, Bianca Maas, Harald Gaspar, Martina Kreiss‐Nachtsheim, Hartmut Engels, Alma Kuechler, … , 2 August 2013. - 9 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 9, Seite 2158-2166
DOI: 10.1002/ajmg.a.36046
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| 20. |
Dworschak, Gabriel C.: De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations / Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis, Ivo de Blaauw, Rolph Pfundt, Iris A.L.M. van R… , December 2013. - 7 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 12, Seite 3035-3041
DOI: 10.1002/ajmg.a.36153
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Suchhistorie (1 Recherche)
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