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UKE - Humangenetik - Aktuelles
www.uke.de
ウェブDr. Fanny Kortüm Dr. Fanny Kortüm wurde der Frank-Majewski-Preis 2016, mit dem die Syndromologie in der Klinischen Genetik gefördert werden soll, für die Arbeit Mutations …
GfH - Awards
gfhev.de
NettetDr. rer. nat. Fanny Kortüm 2016, Erlangen: für die Arbeit "Mutations in KCNH1 and ATP6V1B2 Cause Zimmermann-Laband Syndrome" Prof. Dr. rer. nat. Frank Kaiser
Phenotypic spectrum associated with CASK loss-of ProQuest
search.proquest.com
von U Moog · · Zitiert von: 120 — ORIGINAL ARTICLE. Phenotypic spectrum associated with CASK loss-of-function mutations. Ute Moog,. 1. Kerstin Kutsche,. 2. Fanny Kortüm,. 2. Bettina Chilian,. › openview › 1.pdf
Mutations in PIGU Impair the Function of the GPI ...Radboud Repository
repository.ubn.ru.nl
von A Knaus · · Zitiert von: 42 — Alexej Knaus,1,9,* Fanny Kortüm,2,9 Tjitske Kleefstra,3,9 Asbjørg Stray-Pedersen,4,9 Dejan äukic,1. Yoshiko Murakami,5 Thorsten Gerstner,6 ...
Mutations in EBF3 Disturb Transcriptional Profiles and ...ScienceDirect
www.sciencedirect.com
von FL Harms · · Zitiert von: 70 — , Katta M. Girisha , Andrew A. Hardigan , Fanny Kortüm 1 , Anju Shukla 2 , Malik Alawi , Ashwin Dalal 8 , Lauren Brady 9 ,
Mutations in GRIN2A and GRIN2B encoding regulatory ...Universität zu Lübeck
research.uni-luebeck.de
von S Endele · · Zitiert von: 538 — ... Fanny Kortüm, Angela Fritsch, Friederike K. Pientka, Yorck Hellenbroich, Vera M. Kalscheuer, Jürgen Kohlhase, Ute Moog, Gudrun Rappold, Anita Rauch, Hans ...
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA...
core.ac.uk
By Sabine Endele, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu Milh, Fanny Kortüm, Angela Fritsch, Friederike K ...
Gain-of-Function Mutations in KCNN3 Encoding the Small ...
www.fis-uke.de
ウェブFanny Kortüm Janine Altmüller Fernando Santos-Simarro Laura Baker Jennifer Keller-Ramey Susan M White Philippe M Campeau Karen W Gripp Kerstin Kutsche Related …
Mutations in PIGU Impair the Function of the GPI ...
www.immunosensation.de
ウェブ American journal of human genetics Authors: Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Äukić, Yoshiko Murakami, Thorsten ...
Mutations in PIGU Impair the Function of the GPI ...
fis.uke.de
ウェブFanny Kortüm (Shared first author) Tjitske Kleefstra (Shared first author) Asbjørg Stray-Pedersen (Shared first author) Dejan Äukić Yoshiko Murakami Thorsten Gerstner …
De Novo Mutations in SON Disrupt RNA Splicing of Genes ...Europe PMC
europepmc.org
von JH Kim · · Zitiert von: 99 — ... Fanny Kortüm. 23Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Find articles by Fanny Kortüm. Davor Lessel.
De Novo Mutations in SON Disrupt RNA Splicing of Genes ...Maastricht University
cris.maastrichtuniversity.nl
von JH Kim · · Zitiert von: 99 — ... Fanny Kortuem, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria Bramswig, Franco A. Laccone, Jana Behunova, Helga Rehder ...
Altmetric – Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband...
www.altmetric.com
Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria ...
Mutations in EBF3 Disturb Transcriptional Europe PMC
europepmc.org
von FL Harms · · Zitiert von: 57 — Frederike Leonie Harms,1,23 Katta M. Girisha,2,23 Andrew A. Hardigan,3,4,23 Fanny Kortüm,1 Anju Shukla,2 Malik Alawi,5,6,7 Ashwin Dalal,8 Lauren Brady, › med
Mutations in EBF3 Disturb Transcriptional Profiles and Cause ...
profiles.wustl.edu
von FL Harms · · Zitiert von: 57 — Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, ... › mutatio...
Mutations in EBF3 Disturb Transcriptional Profiles and Cause ...Elsevier
squ.pure.elsevier.com
von FL Harms · · Zitiert von: 70 — Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina ...
Mutations in PIGU Impair the Function of the GPI ...Europe PMC
europepmc.org
von A Knaus · · Zitiert von: 41 — ... Fanny Kortüm,2,9 Tjitske Kleefstra,3,9 Asbjørg Stray-Pedersen,4,9 Dejan Đukić,1 Yoshiko Murakami,5 Thorsten Gerstner,6 Hans van Bokhoven,3 Zafar Iqbal,3,7 ...
Mutations in EBF3 disturb transcriptional profiles and underlie ...
www.biorxiv.org
— Frederike Leonie Harms, Katta Mohan Girisha, View ORCID ProfileAndrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, ... › content
Truncating mutations in SHANK3 associated with global ...National Institutes of Health (.gov)
pubmed.ncbi.nlm.nih.gov
von FH Nia · · Zitiert von: 19 — Fanny Kortüm , Hans-Jürgen Kreienkamp. Affiliation. 1 Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. PMID ...
Mutations in EBF3 disturb transcriptional profiles and ...bioRxiv
www.biorxiv.org
— Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina ...
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