Showing 1–6 of 6 results
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Research | | Open
PEDIA: prioritization of exome data by image analysis
- Tzung-Chien Hsieh
- , Martin A. Mensah
- , Jean T. Pantel
- , Dione Aguilar
- , Omri Bar
- , Allan Bayat
- , Luis Becerra-Solano
- , Heidi B. Bentzen
- , Saskia Biskup
- , Oleg Borisov
- , Oivind Braaten
- , Claudia Ciaccio
- , Marie Coutelier
- , Kirsten Cremer
- , Magdalena Danyel
- , Svenja Daschkey
- , Hilda David Eden
- , Koenraad Devriendt
- , Sandra Wilson
- , Sofia Douzgou
- , Dejan Đukić
- , Nadja Ehmke
- , Christine Fauth
- , Björn Fischer-Zirnsak
- , Nicole Fleischer
- , Heinz Gabriel
- , Luitgard Graul-Neumann
- , Karen W. Gripp
- , Yaron Gurovich
- , Asya Gusina
- , Nechama Haddad
- , Nurulhuda Hajjir
- , Yair Hanani
- , Jakob Hertzberg
- , Konstanze Hoertnagel
- , Janelle Howell
- , Ivan Ivanovski
- , Angela Kaindl
- , Tom Kamphans
- , Susanne Kamphausen
- , Catherine Karimov
- , Hadil Kathom
- , Anna Keryan
- , Alexej Knaus
- , Sebastian Köhler
- , Uwe Kornak
- , Alexander Lavrov
- , Maximilian Leitheiser
- , Gholson J. Lyon
- , Elisabeth Mangold
- , Purificación Marín Reina
- , Antonio Martinez Carrascal
- , Diana Mitter
- , Laura Morlan Herrador
- , Guy Nadav
- , Markus Nöthen
- , Alfredo Orrico
- , Claus-Eric Ott
- , Kristen Park
- , Borut Peterlin
- , Laura Pölsler
- , Annick Raas-Rothschild
- , Linda Randolph
- , Nicole Revencu
- , Christina Ringmann Fagerberg
- , Peter Nick Robinson
- , Stanislav Rosnev
- , Sabine Rudnik
- , Gorazd Rudolf
- , Ulrich Schatz
- , Anna Schossig
- , Max Schubach
- , Or Shanoon
- , Eamonn Sheridan
- , Pola Smirin-Yosef
- , Malte Spielmann
- , Eun-Kyung Suk
- , Yves Sznajer
- , Christian T. Thiel
- , Gundula Thiel
- , Alain Verloes
- , Irena Vrecar
- , Dagmar Wahl
- , Ingrid Weber
- , Korina Winter
- , Marzena Wiśniewska
- , Bernd Wollnik
- , Ming W. Yeung
- , Max Zhao
- , Na Zhu
- , Johannes Zschocke
- , Stefan Mundlos
- , Denise Horn
- & Peter M. Krawitz
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
- Karim Kouz
- , Christina Lissewski
- , Stephanie Spranger
- , Diana Mitter
- , Angelika Riess
- , Vanesa Lopez-Gonzalez
- , Sabine Lüttgen
- , Hatip Aydin
- , Florian von Deimling
- , Christina Evers
- , Andreas Hahn
- , Maja Hempel
- , Ulrike Issa
- , Anne-Karin Kahlert
- , Adrian Lieb
- , Pablo Villavicencio-Lorini
- , Maria Juliana Ballesta-Martinez
- , Sheela Nampoothiri
- , Angela Ovens-Raeder
- , Alena Puchmajerová
- , Robin Satanovskij
- , Heide Seidel
- , Stephan Unkelbach
- , Bernhard Zabel
- , Kerstin Kutsche
- & Martin Zenker
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Research |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
- Sina Renner
- , Helke Schüler
- , Malik Alawi
- , Verena Kolbe
- , Meike Rybczynski
- , Rixa Woitschach
- , Sara Sheikhzadeh
- , Veronika C. Stark
- , Jakob Olfe
- , Elke Roser
- , Friederike Sophia Seggewies
- , Adrian Mahlmann
- , Maja Hempel
- , Melanie J. Hartmann
- , Mathias Hillebrand
- , Dagmar Wieczorek
- , Alexander Erich Volk
- , Katja Kloth
- , Margarete Koch-Hogrebe
- , Rami Abou Jamra
- , Diana Mitter
- , Janine Altmüller
- , Alexandra Wey-Fabrizius
- , Christine Petersen
- , Isabella Rau
- , Guntram Borck
- , Christian Kubisch
- , Thomas S. Mir
- , Yskert von Kodolitsch
- , Kerstin Kutsche
- & Georg Rosenberger
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FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
- Diana Mitter
- , Milka Pringsheim
- , Marc Kaulisch
- , Kim Sarah Plümacher
- , Simone Schröder
- , Rita Warthemann
- , Rami Abou Jamra
- , Martina Baethmann
- , Thomas Bast
- , Hans-Martin Büttel
- , Julie S Cohen
- , Elizabeth Conover
- , Carolina Courage
- , Angelika Eger
- , Ali Fatemi
- , Theresa A Grebe
- , Natalie S Hauser
- , Wolfram Heinritz
- , Katherine L Helbig
- , Marion Heruth
- , Dagmar Huhle
- , Karen Höft
- , Stephanie Karch
- , Gerhard Kluger
- , G Christoph Korenke
- , Johannes R Lemke
- , Richard E Lutz
- , Steffi Patzer
- , Isabelle Prehl
- , Konstanze Hoertnagel
- , Keri Ramsey
- , Tina Rating
- , Angelika Rieß
- , Luis Rohena
- , Mareike Schimmel
- , Rachel Westman
- , Frank-Martin Zech
- , Barbara Zoll
- , Dörthe Malzahn
- , Birgit Zirn
- & Knut Brockmann
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