Works matching IS 09365931 AND DT 2020

Results: 38

The CMT1A duplication: A historical perspective viewed from two sides of an ocean.

Published in:

Medizinische Genetik, 2020, p. 195, doi. 10.1515/medgen-2020-2030

By:

Lupski, James R.;
Timmerman, Vincent

Publication type:

Article

Peripheral Neuropathies.

Published in:

Medizinische Genetik, 2020, p. 193, doi. 10.1515/medgen-2020-2028

By:

Kurth, Ingo

Publication type:

Article

On the differential diagnosis of neuropathy in neurogenetic disorders.

Published in:

Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040

By:

Cirak, Sebahattin;
Daimagüler, Hülya-Sevcan;
Moawia, Abubakar;
Koy, Anne;
Yis, Uluc

Publication type:

Article

On the differential diagnosis of neuropathy in neurogenetic disorders.

Published in:

Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040

By:

Cirak, Sebahattin;
Daimagüler, Hülya-Sevcan;
Moawia, Abubakar;
Koy, Anne;
Yis, Uluc

Publication type:

Article

Frontmatter.

Published in:: Medizinische Genetik, 2020, p. I, doi. 10.1515/medgen-2020-frontmatter1
Publication type:: Article

Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.

Published in:

Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038

By:

Rudnik-Schöneborn, Sabine;
Auer-Grumbach, Michaela;
Senderek, Jan

Publication type:

Article

Peripheral sensory neuropathies – pain loss vs. pain gain.

Published in:

Medizinische Genetik, 2020, p. 233, doi. 10.1515/medgen-2020-2039

By:

Cox, James J.;
Woods, C. Geoffrey;
Kurth, Ingo

Publication type:

Article

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.

Published in:

Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037

By:

Pipis, Menelaos;
Houlden, Henry;
Reilly, Mary M.

Publication type:

Article

Personalia.

Published in:: Medizinische Genetik, 2020, p. 281, doi. 10.1515/medgen-2020-2036
Publication type:: Article

Aktuelle Nachrichten.

Published in:: Medizinische Genetik, 2020, p. 287, doi. 10.1515/medgen-2020-2035
Publication type:: Article

BVDH-Verbandsmitteilungen.

Published in:: Medizinische Genetik, 2020, p. 283, doi. 10.1515/medgen-2020-2034
Publication type:: Article

Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy.

Published in:

Medizinische Genetik, 2020, p. 263, doi. 10.1515/medgen-2020-2033

By:

Eggermann, Katja;
Gläser, Dieter;
Abicht, Angela;
Wirth, Brunhilde

Publication type:

Article

Der Weg in die Einheit: Das Fach Humangenetik 1990–1991. Ein Erfahrungsbericht.

Published in:

Medizinische Genetik, 2020, p. 275, doi. 10.1515/medgen-2020-2032

By:

Passarge, Eberhard;
Sperling, Karl;
Theile, Herbert

Publication type:

Article

Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.

Published in:

Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031

By:

Rudnik-Schöneborn, Sabine;
Elbracht, Miriam

Publication type:

Article

Frontmatter.

Published in:: Medizinische Genetik, 2020, p. I, doi. 10.1515/medgen-2020-frontmatter1
Publication type:: Article

Peripheral sensory neuropathies – pain loss vs. pain gain.

Published in:

Medizinische Genetik, 2020, p. 233, doi. 10.1515/medgen-2020-2039

By:

Cox, James J.;
Woods, C. Geoffrey;
Kurth, Ingo

Publication type:

Article

Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.

Published in:

Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038

By:

Rudnik-Schöneborn, Sabine;
Auer-Grumbach, Michaela;
Senderek, Jan

Publication type:

Article

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project.

Published in:

Medizinische Genetik, 2020, p. 227, doi. 10.1515/medgen-2020-2037

By:

Pipis, Menelaos;
Houlden, Henry;
Reilly, Mary M.

Publication type:

Article

Personalia.

Published in:: Medizinische Genetik, 2020, p. 281, doi. 10.1515/medgen-2020-2036
Publication type:: Article

Aktuelle Nachrichten.

Published in:: Medizinische Genetik, 2020, p. 287, doi. 10.1515/medgen-2020-2035
Publication type:: Article

Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy.

Published in:

Medizinische Genetik, 2020, p. 263, doi. 10.1515/medgen-2020-2033

By:

Eggermann, Katja;
Gläser, Dieter;
Abicht, Angela;
Wirth, Brunhilde

Publication type:

Article

BVDH-Verbandsmitteilungen.

Published in:: Medizinische Genetik, 2020, p. 283, doi. 10.1515/medgen-2020-2034
Publication type:: Article

Der Weg in die Einheit: Das Fach Humangenetik 1990–1991. Ein Erfahrungsbericht.

Published in:

Medizinische Genetik, 2020, p. 275, doi. 10.1515/medgen-2020-2032

By:

Passarge, Eberhard;
Sperling, Karl;
Theile, Herbert

Publication type:

Article

Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.

Published in:

Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031

By:

Rudnik-Schöneborn, Sabine;
Elbracht, Miriam

Publication type:

Article

The CMT1A duplication: A historical perspective viewed from two sides of an ocean.

Published in:

Medizinische Genetik, 2020, p. 195, doi. 10.1515/medgen-2020-2030

By:

Lupski, James R.;
Timmerman, Vincent

Publication type:

Article

Peripheral Neuropathies.

Published in:

Medizinische Genetik, 2020, p. 193, doi. 10.1515/medgen-2020-2028

By:

Kurth, Ingo

Publication type:

Article

Frontmatter.

Published in:: Medizinische Genetik, 2020, p. I, doi. 10.1515/medgen-2020-frontmatter1
Publication type:: Article

Aktuelle Nachrichten.

Published in:

Medizinische Genetik, 2020, p. 185, doi. 10.1515/medgen-2020-2029

By:

Redaktion medgen

Publication type:

Article

Combating the SARS-CoV-2 pandemic: How can the field of Human Genetics contribute?

Published in:

Medizinische Genetik, 2020, p. 163, doi. 10.1515/medgen-2020-2027

By:

Ludwig, Kerstin U.;
Schmidt, Axel;
Hoffmann, Per;
Nöthen, Markus M.

Publication type:

Article

GfH-Promotionspreise 2020.

Published in:

Medizinische Genetik, 2020, p. 177, doi. 10.1515/medgen-2020-2026

By:

GfH Verbandsmitteilungen

Publication type:

Article

Psychiatrische Versorgung – mutiert und pervertiert: Von einer modernen Psychiatrie zur Tötungsanstalt im Dritten Reich: Pirna-Sonnenstein: Exkursionsbericht des Vereins Psychosoziale Aspekte der Humangenetik e. V. (VPAH).

Published in:

Medizinische Genetik, 2020, p. 181, doi. 10.1515/medgen-2020-2025

By:

Kreuz, Friedmar

Publication type:

Article

Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification.

Published in:

Medizinische Genetik, 2020, p. 131, doi. 10.1515/medgen-2020-2023

By:

Bolz, Hanno J.

Publication type:

Article

Gene therapy as a possible option to treat hereditary hearing loss.

Published in:

Medizinische Genetik, 2020, p. 149, doi. 10.1515/medgen-2020-2021

By:

Morgan, Michael;
Schott, Juliane W.;
Rossi, Axel;
Landgraf, Christian;
Warnecke, Athanasia;
Staecker, Hinrich;
Lesinski-Schiedat, Anke;
Schlegelberger, Brigitte;
Büning, Hildegard;
Auber, Bernd;
Schambach, Axel

Publication type:

Article

Non-syndromic hearing loss: clinical and diagnostic challenges.

Published in:

Medizinische Genetik, 2020, p. 117, doi. 10.1515/medgen-2020-2022

By:

Vona, Barbara;
Doll, Julia;
Hofrichter, Michaela A. H.;
Haaf, Thomas

Publication type:

Article

Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom.

Published in:

Medizinische Genetik, 2020, p. 169, doi. 10.1515/medgen-2020-2020

By:

Deutsche Gesellschaft für Humangenetik e.V.;
Berufsverband Deutscher Humangenetiker e.V.

Publication type:

Article

Clinical and molecular genetics of Meniere disease.

Published in:

Medizinische Genetik, 2020, p. 141, doi. 10.1515/medgen-2020-2019

By:

Martinez-Gomez, Estrella;
Gallego-Martinez, Alvaro;
Roman-Naranjo, Pablo;
Lopez-Escamez, Jose A.

Publication type:

Article

Hereditary auditory disorders.

Published in:

Medizinische Genetik, 2020, p. 107, doi. 10.1515/medgen-2020-2017

By:

Vona, Barbara;
Haaf, Thomas

Publication type:

Article

Expert interpretation of genes and variants in hereditary hearing loss.

Published in:

Medizinische Genetik, 2020, p. 109, doi. 10.1515/medgen-2020-2018

By:

DiStefano, Marina T.;
Hughes, Madeline Y.;
Patel, Mayher J.;
Wilcox, Emma H.;
Oza, Andrea M.

Publication type:

Article