Showing 1–8 of 8 results
-
Research | | Open
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
- Anaïs Begemann
- , Heinrich Sticht
- , Amber Begtrup
- , Antonio Vitobello
- , Laurence Faivre
- , Siddharth Banka
- , Bader Alhaddad
- , Reza Asadollahi
- , Jessica Becker
- , Tatjana Bierhals
- , Kathleen E. Brown
- , Ange-Line Bruel
- , Theresa Brunet
- , Maryline Carneiro
- , Kirsten Cremer
- , Robert Day
- , Anne-Sophie Denommé-Pichon
- , Dave A. Dyment
- , Hartmut Engels
- , Rachel Fisher
- , Elaine S. Goh
- , M. J. Hajianpour
- , Lucia Ribeiro Machado Haertel
- , Nadine Hauer
- , Maja Hempel
- , Theresia Herget
- , Jessika Johannsen
- , Cornelia Kraus
- , Gwenaël Le Guyader
- , Gaetan Lesca
- , Frédéric Tran Mau-Them
- , John Henry McDermott
- , Kirsty McWalter
- , Pierre Meyer
- , Katrin Õunap
- , Bernt Popp
- , Tiia Reimand
- , Korbinian M. Riedhammer
- , Martina Russo
- , Lynette G. Sadleir
- , Margarita Saenz
- , Manuel Schiff
- , Elisabeth Schuler
- , Steffen Syrbe
- , Amelie Theresa Van der Ven
- , Alain Verloes
- , Marjolaine Willems
- , Christiane Zweier
- , Katharina Steindl
- , Markus Zweier
- & Anita Rauch
-
-
Research |
-
Research |
-
Research |
-
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
-
Research |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
- Josefine S Witteveen
- , Marjolein H Willemsen
- , Thaís C D Dombroski
- , Nick H M van Bakel
- , Willy M Nillesen
- , Josephus A van Hulten
- , Eric J R Jansen
- , Dave Verkaik
- , Hermine E Veenstra-Knol
- , Conny M A van Ravenswaaij-Arts
- , Jolien S Klein Wassink-Ruiter
- , Marie Vincent
- , Albert David
- , Cedric Le Caignec
- , Jolanda Schieving
- , Christian Gilissen
- , Nicola Foulds
- , Patrick Rump
- , Tim Strom
- , Kirsten Cremer
- , Alexander M Zink
- , Hartmut Engels
- , Sonja A de Munnik
- , Jasper E Visser
- , Han G Brunner
- , Gerard J M Martens
- , Rolph Pfundt
- , Tjitske Kleefstra
- & Sharon M Kolk
-
Research |
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
- Alma Kuechler
- , Alexander M Zink
- , Thomas Wieland
- , Hermann-Josef Lüdecke
- , Kirsten Cremer
- , Leonardo Salviati
- , Pamela Magini
- , Kimia Najafi
- , Christiane Zweier
- , Johanna Christina Czeschik
- , Stefan Aretz
- , Sabine Endele
- , Federica Tamburrino
- , Claudia Pinato
- , Maurizio Clementi
- , Jasmin Gundlach
- , Carina Maylahn
- , Laura Mazzanti
- , Eva Wohlleber
- , Thomas Schwarzmayr
- , Roxana Kariminejad
- , Avner Schlessinger
- , Dagmar Wieczorek
- , Tim M Strom
- , Gaia Novarino
- & Hartmut Engels
