E-LIB Suche - Ergebnisse für: Tönnies, Holger

1

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosi..:

Rosenbohm, Angela ; Pott, Hendrik ; Thomsen, Mirja...
Movement Disorders. 37 (2022) 12 - p. 2427-2439 , 2022

Link: https://doi.org/10.1002/..

2

Newborn screening in Germany:

Tönnies, Holger ; Nennstiel, Uta
Medizinische Genetik. 34 (2022) 1 - p. 1-2 , 2022

Link: https://doi.org/10.1515/..

3

Humangenetische Beratung in Deutschland: Entwicklung der In..:

Schmidtke, Jörg ; Epplen, Jörg T. ; Glaubitz, Ralf...
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 63 (2020) 9 - p. 1161-1167 , 2020

Link: https://doi.org/10.1007/..

4

Grundlagen und aktueller Stand des Neugeborenen-Screenings ..:

Nennstiel, Uta ; Tönnies, Holger
Medizinische Genetik. 32 (2020) 1 - p. 67-74 , 2020

Link: https://doi.org/10.1515/..

5

Predictive genetic testing, risk communication, and risk pe..:

Fisher, Eva ; Achilles, Steffi ; Tönnies, Holger
Journal of Community Genetics. 5 (2013) 1 - p. 1-5 , 2013

Link: https://doi.org/10.1007/..

6

Reflecting on Earlier Experiences with Unsolicited Findings..:

Rigter, Tessel ; Henneman, Lidewij ; Kristoffersson, Ulf...
Human Mutation. 34 (2013) 10 - p. 1322-1328 , 2013

Link: https://doi.org/10.1002/..

7

Chromosomal Aberrations Associated with Clonal Evolution an..:

Meyer, Stefan ; Neitzel, Heidemarie ; Tönnies, Holger
Anemia. 2012 (2012) - p. 1-6 , 2012

Link: https://doi.org/10.1155/..

8

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provid..:

Bens, Susanne ; Haake, Andrea ; Tönnies, Holger...
European Journal of Medical Genetics. 54 (2011) 5 - p. e501-e504 , 2011

Link: https://doi.org/10.1016/..

9

Molecular Cytogenetics in Molecular Diagnostics:

, In: Molecular Diagnostics,

Tönnies, Holger - p. 133-153 , 2010

Link: https://doi.org/10.1016/..

10

Contributors:

, In: Molecular Diagnostics,

Ahmed, Farid E. ; Andersen, Claus L. ; Ansorge, Wilhelm J.... - p. ix-xii , 2010

Link: https://doi.org/10.1016/..

11

Mutations in GRIN2A and GRIN2B encoding regulatory subunits..:

Endele, Sabine ; Rosenberger, Georg ; Geider, Kirsten...
Nature Genetics. 42 (2010) 11 - p. 1021-1026 , 2010

Link: https://doi.org/10.1038/..

12

Possible genetic heterogeneity of spinocerebellar ataxia li..:

Weissbach, Anne ; Djarmati, Ana ; Klein, Christine...
Movement Disorders. 25 (2010) 11 - p. 1577-1582 , 2010

Link: https://doi.org/10.1002/..

13

Two siblings with immunodeficiency, facial abnormalities an..:

Polityko, Anna ; Khurs, Olga ; Rumyantseva, Natalia...
Molecular Cytogenetics. 3 (2010) 1 - p. 5 , 2010

Link: https://doi.org/10.1186/..

14

A duplication in 1q21.3 in a family with early onset and ch..:

Muhle, Hiltrud ; Steinich, Ines ; Von Spiczak, Sarah...
Epilepsia. 51 (2010) 12 - p. 2453-2456 , 2010

Link: https://doi.org/10.1111/..

15

Four patients with speech delay, seizures and variable corp..:

Caliebe, Almuth ; Kroes, Hester Y. ; van der Smagt, Jasper J....
European Journal of Medical Genetics. 53 (2010) 4 - p. 179-185 , 2010

Link: https://doi.org/10.1016/..