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Enriching representation learning using 53 million patient ...ScienceDirect.com
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von M Daniali · · Zitiert von: 8 — ... Parthasarathy b c d , Edward Kim a , Dario D. Salvucci a , Jeffrey M. Miller b , Scott Haag a b 1 , Ingo Helbig b c d h 1. Show more. Add to Mendeley. Share. von M Daniali · · Zitiert von: 8 — ... Parthasarathy b c d , Edward Kim a , Dario D. Salvucci a , Jeffrey M. Miller b , Scott Haag a b 1 , Ingo Helbig b c d h 1. Show more. Add to Mendeley. Share.
Peer Review reports - BMC Neurologybmcneurol.biomedcentral.com › articles › peer-review
bmcneurol.biomedcentral.com
8 Apr 2013, Reviewed, Reviewer Report - Ingo Helbig. 16 Apr 2013, Author responded, Author comments - Peter Hedera. Resubmission - Version 4.
dblp: BibTeX records: Ingo Helbig
dblp.uni-trier.de
List of computer science publications by BibTeX records: Ingo Helbig
SPATA5 mutations cause a distinct autosomal recessive phenotype of...
ojrd.biomedcentral.com
Rebecca Buchert,; Addie I. Nesbitt,; Hasan Tawamie,; Ian D. Krantz,; Livija Medne,; Ingo Helbig,; Dena R. Matalon,; André Reis,; Avni Santani,; Heinrich Sticht and; Rami Abou JamraEmail author. Orphanet Journal of Rare Diseases :130. https://doi.org s © The Author(s).
Michael Brudno - dblpdblp.uni-trier.de › Michael Brudno
dblp.uni-trier.de
... Hugh J. S. Dawkins, Laura E. DeMare, Andrew Devereau, Bert B. A. de Vries, Helen V. Firth, Kathleen Freson , Daniel Greene, Ada Hamosh, Ingo Helbig, ...
15q13.3 microdeletions increase risk of idiopathic generalized...
www.ikmb.uni-kiel.de
Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak ...
The Human Phenotype Ontology in DBLPdblp.uni-trier.de › rec › journals › nar
dblp.uni-trier.de
— ... Zafer Yüksel , Ingo Helbig, Christopher J. Mungall, Melissa A. Haendel , Peter N. Robinson : The Human Phenotype Ontology in
OPUS 4 | Burden analysis of rare microdeletions suggests a strong...
publikationen.ub.uni-frankfurt.de
... Rainer Surges, Christian Erich Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M. Klein, Felix Rosenow, ...
Unizeit | Nachrichten aus der Universität Kiel
www.uni-kiel.de
Ingo Helbig, 34 Jahre. Geboren in Aachen. Seit Juli Juniorprofessor für Klinische und Molekulare Epileptologie im Kindes- und Jugendalter an der ...
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor:...
www.igsb.uni-bonn.de
Weber, Peter M Krawitz, Ingo Helbig, Usha Kini, and Rikke S Møller (2019) ...
Lessons learned from 40 novel PIGA patients and a review of the ...www.igsb.uni-bonn.de › publications
www.igsb.uni-bonn.de
... van Slegtenhorst, Lynne A Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, and Rikke S Møller (2020) ...
Rare Noncoding Mutations Extend the Mutational Spectrum in the ...www.igsb.uni-bonn.de › publications
www.igsb.uni-bonn.de
Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu-Rachma, Miles D Thompson, David E Cole, Steve Skinner, Fran Annese, ...
In a severe childhood neurodegeneration, novel mechanism found: Clues...
www.sciencedaily.com
Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt...
Telemedicine effective for monitoring patients in large pediatric...
www.sciencecodex.com
... Ingo Helbig, MD, a pediatric neurologist at CHOP, director of the genomic and data science core of CHOP's Epilepsy Neurogenetics Initiative ...
Gene linked with early epilepsy discovered -- ScienceDaily
www.sciencedaily.com
Certain types of early-onset epilepsy are caused by previously unknown mutations of a potassium channel gene, KCNA2. The mutations disrupt the electrical...
New gene for severe childhood epilepsy identified -- ScienceDaily
www.sciencedaily.com
Using a novel combination of technologies, the EuroEPINOMICS RES consortium found mutations in CHD2 responsible for a subset of epilepsy patients with symptoms...
Verwandte Suchanfragen zu Ingo Helbig
Hiltrud Muhle Gabi Hirsekorn Kirstin Klotzsche | Knut Bourgund Thomas Helbig Christine Schwetzel-Feja |
Person "Helbig" (11) Vorname "Ingo" (19296) Name "Helbig" (1271) |
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