Skip to contents

Bréchet, Aline [Author]; Buchert, Rebecca [Author]; Schwenk, Jochen [Author]; Boudkkazi, Sami [Author]; Zolles, Gerd [Author]; Siquier-Pernet, Karine [Author]; Schaber, Irene [Author]; Bildl, Wolfgang [Author]; Saadi, Abdelkrim [Author]; Bole-Feysot, Christine [Author]; Linsel-Nitschke, Patrick [Author]; Reis, André [Author]; Sticht, Heinrich [Author]; Al-Sannaa, Nouriyah [Author]; Rolfs, Arndt [Author]; Kulik, Akos [Author]; Schulte, Uwe [Author]; Colleaux, Laurence [Author]; Abou Jamra, Rami [Author]; Fakler, Bernd [Author]

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

View online
Schließen

Access

... to E-book via DOI (freely accessible)

... to E-book via Resolving system (freely accessible)

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

[London]: Nature Publishing Group UK, 2017

Published in: Nature Communications ; 8 (2017), 15910
Buchert, Rebecca [Author] ; Reis, André [Other]

Identifizierung und Charakterisierung der Kandidatengene FAR1, EDC3, FRRS1L und HMG20A bei Individuen mit autosomal rezessiver mentaler Retardierung

View online
Schließen

Access

... to E-book via Resolving system

... to E-book via German National Library

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Erlangen: Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Schmidt, Thorsten; Buchert, Rebecca; Mau-Holzmann, Ulrike

Integration moderner Lehrmethoden in den Humangenetik-Unterricht in Tübingen

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Walter de Gruyter GmbH, 2019

Published in: Medizinische Genetik, 31 (2019) 3, Seite 313-319
Nafi, Omar; Ramadan, Bashar; Riess, Olaf; Buchert, Rebecca; Froukh, Tawfiq

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Baishideng Publishing Group Inc., 2019

Published in: World Journal of Clinical Cases, 7 (2019) 2, Seite 203-208
Bilal, Muhammad; Haack, Tobias B.; Buchert, Rebecca; Peralta, Susana; Ahmad, Imtiaz; Faisal; Abbasi, Sanaullah; Ahmad, Wasim

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

S. Karger AG, 2023

Published in: Molecular Syndromology, 14 (2023) 6, Seite 469-476
Bauer, Gregor; Buchert, Rebecca; Haack, Tobias B.; Harting, Inga; Gutschalk, Alexander

CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2022

Published in: Clinical Genetics, 102 (2022) 1, Seite 80-81
Harmsen, Stefani; Buchert, Rebecca; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix

Bain type of X‐linked syndromic mental retardation in boys

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2019

Published in: Clinical Genetics, 95 (2019) 6, Seite 734-735
Laugwitz, Lucia; Grimmel, Mona; Buchert, Rebecca; Sturm, Marc; Beck-Wödl, Stefanie; Rieß, Olaf; Haack, Tobias

FV 943. Facilitating a Molecular Diagnosis as Soon as Possible: Diagnostic Exome in Neurometabolic Disorders

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Georg Thieme Verlag KG, 2018

Published in: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics (2018)
Magg, Janine; Krägeloh-Mann, Ingeborg; Weichselbaum, Annette; Haack, Tobias; Buchert-Lo, Rebecca

P 968. Vitamine B6-Dependent Epilepsy in a 14-Year-Old Girl with Drug-Resistant Seizures and Recurring Status Epilepticus

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Georg Thieme Verlag KG, 2018

Published in: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics (2018)
Froukh, Tawfiq; Abou Jamra, Rami; Heinzen, Erin; Goldstein, David; Riess, Olaf; Buchert, Rebecca

AB011. Genetic basis of intellectual disability in consanguineous families from Jordan

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB011-AB011
Bilal, Muhammad; Haack, Tobias B.; Buchert, Rebecca; Peralta, Susana; Uddin, Najum; Ali, Raja Hussain; Liaqat, Khurram; Ahmad, Wasim

Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

S. Karger AG, 2023

Published in: Molecular Syndromology, 14 (2023) 3, Seite 201-207
Beck-Wödl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Rieß, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2018

Published in: Acta Neuropathologica Communications, 6 (2018) 1
Laugwitz, Lucia; Redler, Silke; Buchert, Rebecca; Sturm, Marc; Zeile, Irene; Schara, Ulrike; Wieczorek, Dagmar; Haack, Tobias; Distelmaier, Felix

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Georg Thieme Verlag KG, 2018

Published in: Klinische Pädiatrie, 230 (2018) 5, Seite 281-283
Witt, Dennis; Faust, Ulrike; Strobl‐Wildemann, Gertrud; Sturm, Marc; Buchert, Rebecca; Zuleger, Theresia; Admard, Jakob; Casadei, Nicolas; Ossowski, Stephan; Haack, Tobias B.; Rieß, Olaf; Schroeder, Christopher

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2023

Published in: Molecular Genetics & Genomic Medicine, 11 (2023) 6
Buchert, Rebecca; Schenk, Elisabeth; Hentrich, Thomas; Weber, Nico; Rall, Katharina; Sturm, Marc; Kohlbacher, Oliver; Koch, André; Riess, Olaf; Brucker, Sara Y.; Schulze-Hentrich, Julia M.

Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

MDPI AG, 2022

Published in: Journal of Clinical Medicine, 11 (2022) 19, Seite 5598
Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bültmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Georg Thieme Verlag KG, 2021

Published in: Neuropediatrics, 52 (2021) 4, Seite 274-283
Mayer, Anja K.; Balousha, Ghassan; Sharkia, Rajech; Mahajnah, Muhammad; Ayesh, Suhail; Schulze, Martin; Buchert, Rebecca; Zobor, Ditta; Azem, Abdussalam; Schöls, Ludger; Bauer, Peter; Wissinger, Bernd

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2020

Published in: European Journal of Human Genetics, 28 (2020) 6, Seite 742-753
Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan; Krantz, Ian D.; Medne, Livija; Helbig, Ingo; Matalon, Dena R.; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Springer Science and Business Media LLC, 2016

Published in: Orphanet Journal of Rare Diseases, 11 (2016) 1
Deserno, Lorenz; Huys, Quentin J. M.; Boehme, Rebecca; Buchert, Ralph; Heinze, Hans-Jochen; Grace, Anthony A.; Dolan, Raymond J.; Heinz, Andreas; Schlagenhauf, Florian

Ventral striatal dopamine reflects behavioral and neural signatures of model-based control during sequential decision making

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Proceedings of the National Academy of Sciences, 2015

Published in: Proceedings of the National Academy of Sciences, 112 (2015) 5, Seite 1595-1600
Deserno, Lorenz; Huys, Quentin J. M.; Boehme, Rebecca; Buchert, Ralph; Heinze, Hans-Jochen; Grace, Anthony A.; Dolan, Raymond J.; Heinz, Andreas; Schlagenhauf, Florian

Ventral striatal dopamine reflects behavioral and neural signatures of model-based control during sequential decision making

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

National Academy of Sciences, 2015

Published in: Proceedings of the National Academy of Sciences of the United States of America, 112 (2015) 5, Seite 1595-1600

You did not find what you were looking for?

Purchase suggestion
Are you missing something you need for your research? If you have any suggestions please share them here.

Interlibrary Loan
Please search and order your favorite title in the Interlibrary Loan Portal.

Search in field:

Recently searched for:

You did not find what you were looking for?

> Year of publication

Year of publication