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Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. [electronic resource] by
- Boogerd, Cornelis J J
- Dooijes, Dennis
- Ilgun, Aho
- Mathijssen, Inge B
- Hordijk, Roel
- van de Laar, Ingrid M B H
- Rump, Patrick
- Veenstra-Knol, Hermine E
- Moorman, Antoon F M
- Barnett, Phil
- Postma, Alex V
Producer: 20110111
In:
Cardiovascular research vol. 88
Availability: No items available.
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11.
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Mutations in RARS cause hypomyelination. [electronic resource] by
- Wolf, Nicole I
- Salomons, Gajja S
- Rodenburg, Richard J
- Pouwels, Petra J W
- Schieving, Jolanda H
- Derks, Terry G J
- Fock, Johanna M
- Rump, Patrick
- van Beek, Daphne M
- van der Knaap, Marjo S
- Waisfisz, Quinten
Producer: 20140922
In:
Annals of neurology vol. 76
Availability: No items available.
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12.
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. [electronic resource] by
- El Chehadeh-Djebbar, Salima
- Blair, Edward
- Holder-Espinasse, Muriel
- Moncla, Anne
- Frances, Anne-Marie
- Rio, Marlène
- Debray, François-Guillaume
- Rump, Patrick
- Masurel-Paulet, Alice
- Gigot, Nadège
- Callier, Patrick
- Duplomb, Laurence
- Aral, Bernard
- Huet, Frédéric
- Thauvin-Robinet, Christel
- Faivre, Laurence
Producer: 20131104
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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13.
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Loss of ADAM17 is associated with severe multiorgan dysfunction. [electronic resource] by
- Bandsma, Robert H J
- van Goor, Harry
- Yourshaw, Michael
- Horlings, Rudolf K
- Jonkman, Marcel F
- Schölvinck, Elisabeth H
- Karrenbeld, Arend
- Scheenstra, Rene
- Kömhoff, Martin
- Rump, Patrick
- Koopman-Keemink, Yvonne
- Nelson, Stanley F
- Escher, Johanna C
- Cutz, Ernest
- Martín, Martín G
Producer: 20150728
In:
Human pathology vol. 46
Availability: No items available.
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14.
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Central 22q11.2 deletions. [electronic resource] by
- Rump, Patrick
- de Leeuw, Nicole
- van Essen, Anthonie J
- Verschuuren-Bemelmans, Corien C
- Veenstra-Knol, Hermine E
- Swinkels, Mariëlle E M
- Oostdijk, Wilma
- Ruivenkamp, Claudia
- Reardon, Willie
- de Munnik, Sonja
- Ruiter, Mariken
- Frumkin, Ayala
- Lev, Dorit
- Evers, Christina
- Sikkema-Raddatz, Birgit
- Dijkhuizen, Trijnie
- van Ravenswaaij-Arts, Conny M
Producer: 20160516
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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15.
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Mutations in two regions of FLNB result in atelosteogenesis I and III. [electronic resource] by
- Farrington-Rock, Claire
- Firestein, Marc H
- Bicknell, Louise S
- Superti-Furga, Andrea
- Bacino, Carlos A
- Cormier-Daire, Valerie
- Le Merrer, Martine
- Baumann, Clarisse
- Roume, Joelle
- Rump, Patrick
- Verheij, Joke B G M
- Sweeney, Elizabeth
- Rimoin, David L
- Lachman, Ralph S
- Robertson, Stephen P
- Cohn, Daniel H
- Krakow, Deborah
Producer: 20060807
In:
Human mutation vol. 27
Availability: No items available.
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16.
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. [electronic resource] by
- Bear, Kelly A
- Solomon, Benjamin D
- Antonini, Sonir
- Arnhold, Ivo J P
- França, Marcela M
- Gerkes, Erica H
- Grange, Dorothy K
- Hadley, Donald W
- Jääskeläinen, Jarmo
- Paulo, Sabrina S
- Rump, Patrick
- Stratakis, Constantine A
- Thompson, Elizabeth M
- Willis, Mary
- Winder, Thomas L
- Jorge, Alexander A L
- Roessler, Erich
- Muenke, Maximilian
Producer: 20150121
In:
Journal of medical genetics vol. 51
Availability: No items available.
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17.
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Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. [electronic resource] by
- van Daalen, Emma
- Kemner, Chantal
- Verbeek, Nienke E
- van der Zwaag, Bert
- Dijkhuizen, Trijnie
- Rump, Patrick
- Houben, Renske
- van 't Slot, Ruben
- de Jonge, Maretha V
- Staal, Wouter G
- Beemer, Frits A
- Vorstman, Jacob A S
- Burbach, J Peter H
- van Amstel, Hans Kristian Ploos
- Hochstenbach, Ron
- Brilstra, Eva H
- Poot, Martin
Producer: 20120330
In:
Neurogenetics vol. 12
Availability: No items available.
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18.
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. [electronic resource] by
- Rump, Patrick
- Jazayeri, Omid
- van Dijk-Bos, Krista K
- Johansson, Lennart F
- van Essen, Anthonie J
- Verheij, Johanna B G M
- Veenstra-Knol, Hermine E
- Redeker, Egbert J W
- Mannens, Marcel M A M
- Swertz, Morris A
- Alizadeh, Behrooz Z
- van Ravenswaaij-Arts, Conny M A
- Sinke, Richard J
- Sikkema-Raddatz, Birgit
Producer: 20160930
In:
BMC medical genomics vol. 9
Availability: No items available.
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19.
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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. [electronic resource] by
- El Chehadeh-Djebbar, Salima
- Faivre, Laurence
- Moncla, Anne
- Aral, Bernard
- Missirian, Chantal
- Popovici, Cornel
- Rump, Patrick
- Van Essen, Anthonie
- Frances, Anne-Marie
- Gigot, Nadège
- Cusin, Veronica
- Masurel-Paulet, Alice
- Gueneau, Lucie
- Payet, Muriel
- Ragon, Clémence
- Marle, Nathalie
- Mosca-Boidron, Anne-Laure
- Huet, Frédéric
- Balikova, Irina
- Teyssier, Jean-Raymond
- Mugneret, Francine
- Thauvin-Robinet, Christel
- Callier, Patrick
Producer: 20120210
In:
Journal of medical genetics vol. 48
Availability: No items available.
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20.
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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. [electronic resource] by
- Astuti, Dewi
- Morris, Mark R
- Cooper, Wendy N
- Staals, Raymond H J
- Wake, Naomi C
- Fews, Graham A
- Gill, Harmeet
- Gentle, Dean
- Shuib, Salwati
- Ricketts, Christopher J
- Cole, Trevor
- van Essen, Anthonie J
- van Lingen, Richard A
- Neri, Giovanni
- Opitz, John M
- Rump, Patrick
- Stolte-Dijkstra, Irene
- Müller, Ferenc
- Pruijn, Ger J M
- Latif, Farida
- Maher, Eamonn R
Producer: 20120420
In:
Nature genetics vol. 44
Availability: No items available.
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