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Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. [electronic resource] by
- Lenski, Claus
- Abidi, Fatima
- Meindl, Alfons
- Gibson, Alice
- Platzer, Matthias
- Frank Kooy, R
- Lubs, Herbert A
- Stevenson, Roger E
- Ramser, Juliane
- Schwartz, Charles E
Producer: 20040510
In:
American journal of human genetics vol. 74
Availability: No items available.
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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. [electronic resource] by
- Beunders, Gea
- de Munnik, Sonja A
- Van der Aa, Nathalie
- Ceulemans, Berten
- Voorhoeve, Els
- Groffen, Alexander J
- Nillesen, Willy M
- Meijers-Heijboer, Elizabeth J
- Frank Kooy, R
- Yntema, Helger G
- Sistermans, Erik A
Producer: 20160203
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. [electronic resource] by
- Ramos-Brossier, Mariana
- Montani, Caterina
- Lebrun, Nicolas
- Gritti, Laura
- Martin, Christelle
- Seminatore-Nole, Christine
- Toussaint, Aurelie
- Moreno, Sarah
- Poirier, Karine
- Dorseuil, Olivier
- Chelly, Jamel
- Hackett, Anna
- Gecz, Jozef
- Bieth, Eric
- Faudet, Anne
- Heron, Delphine
- Frank Kooy, R
- Loeys, Bart
- Humeau, Yann
- Sala, Carlo
- Billuart, Pierre
Producer: 20150922
In:
Human molecular genetics vol. 24
Availability: No items available.
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. [electronic resource] by
- Iqbal, Zafar
- Vandeweyer, Geert
- van der Voet, Monique
- Waryah, Ali Muhammad
- Zahoor, Muhammad Yasir
- Besseling, Judith A
- Roca, Laura Tomas
- Vulto-van Silfhout, Anneke T
- Nijhof, Bonnie
- Kramer, Jamie M
- Van der Aa, Nathalie
- Ansar, Muhammad
- Peeters, Hilde
- Helsmoortel, Céline
- Gilissen, Christian
- Vissers, Lisenka E L M
- Veltman, Joris A
- de Brouwer, Arjan P M
- Frank Kooy, R
- Riazuddin, Sheikh
- Schenck, Annette
- van Bokhoven, Hans
- Rooms, Liesbeth
Producer: 20131101
In:
Human molecular genetics vol. 22
Availability: No items available.
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