Showing 1–10 of 10 results
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Research | | Open
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
- Patrick Deelen
- , Sipko van Dam
- , Johanna C. Herkert
- , Juha M. Karjalainen
- , Harm Brugge
- , Kristin M. Abbott
- , Cleo C. van Diemen
- , Paul A. van der Zwaag
- , Erica H. Gerkes
- , Evelien Zonneveld-Huijssoon
- , Jelkje J. Boer-Bergsma
- , Pytrik Folkertsma
- , Tessa Gillett
- , K. Joeri van der Velde
- , Roan Kanninga
- , Peter C. van den Akker
- , Sabrina Z. Jan
- , Edgar T. Hoorntje
- , Wouter P. te Rijdt
- , Yvonne J. Vos
- , Jan D. H. Jongbloed
- , Conny M. A. van Ravenswaaij-Arts
- , Richard Sinke
- , Birgit Sikkema-Raddatz
- , Wilhelmina S. Kerstjens-Frederikse
- , Morris A. Swertz
- & Lude Franke
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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
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
- Michael D. Fountain
- , Emmelien Aten
- , Megan T. Cho
- , Jane Juusola
- , Magdalena A. Walkiewicz
- , Joseph W. Ray
- , Fan Xia
- , Yaping Yang
- , Brett H. Graham
- , Carlos A. Bacino
- , Lorraine Potocki
- , Arie van Haeringen
- , Claudia A.L. Ruivenkamp
- , Pedro Mancias
- , Hope Northrup
- , Mary K. Kukolich
- , Marjan M. Weiss
- , Conny M.A. van Ravenswaaij-Arts
- , Inge B. Mathijssen
- , Sebastien Levesque
- , Naomi Meeks
- , Jill A. Rosenfeld
- , Danielle Lemke
- , Ada Hamosh
- , Suzanne K. Lewis
- , Simone Race
- , Laura L. Stewart
- , Beverly Hay
- , Andrea M. Lewis
- , Rita L. Guerreiro
- , Jose T. Bras
- , Marcia P. Martins
- , Gerarda Derksen-Lubsen
- , Els Peeters
- , Connie Stumpel
- , Sander Stegmann
- , Levinus A. Bok
- , Gijs W.E. Santen
- & Christian P. Schaaf
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
- Jean-Baptiste Rivière
- , Bregje W M van Bon
- , Alexander Hoischen
- , Stanislav S Kholmanskikh
- , Brian J O'Roak
- , Christian Gilissen
- , Sabine Gijsen
- , Christopher T Sullivan
- , Susan L Christian
- , Omar A Abdul-Rahman
- , Joan F Atkin
- , Nicolas Chassaing
- , Valerie Drouin-Garraud
- , Andrew E Fry
- , Jean-Pierre Fryns
- , Karen W Gripp
- , Marlies Kempers
- , Tjitske Kleefstra
- , Grazia M S Mancini
- , Małgorzata J M Nowaczyk
- , Conny M A van Ravenswaaij-Arts
- , Tony Roscioli
- , Michael Marble
- , Jill A Rosenfeld
- , Victoria M Siu
- , Bert B A de Vries
- , Jay Shendure
- , Alain Verloes
- , Joris A Veltman
- , Han G Brunner
- , M Elizabeth Ross
- , Daniela T Pilz
- & William B Dobyns
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Research |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
- Michaela Auer-Grumbach
- , Andrea Olschewski
- , Lea Papić
- , Hannie Kremer
- , Meriel E McEntagart
- , Sabine Uhrig
- , Carina Fischer
- , Eleonore Fröhlich
- , Zoltán Bálint
- , Bi Tang
- , Heimo Strohmaier
- , Hanns Lochmüller
- , Beate Schlotter-Weigel
- , Jan Senderek
- , Angelika Krebs
- , Katherine J Dick
- , Richard Petty
- , Cheryl Longman
- , Neil E Anderson
- , George W Padberg
- , Helenius J Schelhaas
- , Conny M A van Ravenswaaij-Arts
- , Thomas R Pieber
- , Andrew H Crosby
- & Christian Guelly
