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Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. [electronic resource] by
- Poirier, K
- Lacombe, D
- Gilbert-Dussardier, B
- Raynaud, M
- Desportes, V
- de Brouwer, A P M
- Moraine, C
- Fryns, J P
- Ropers, H H
- Beldjord, C
- Chelly, J
- Bienvenu, T
Producer: 20070327
In:
Neurogenetics vol. 7
Availability: No items available.
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6.
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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. [electronic resource] by
- Kalay, E
- de Brouwer, A P M
- Caylan, R
- Nabuurs, S B
- Wollnik, B
- Karaguzel, A
- Heister, J G A M
- Erdol, H
- Cremers, F P M
- Cremers, C W R J
- Brunner, H G
- Kremer, H
Producer: 20060503
In:
Journal of molecular medicine (Berlin, Germany) vol. 83
Availability: No items available.
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7.
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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. [electronic resource] by
- van Bon, B W M
- Hoischen, A
- Hehir-Kwa, J
- de Brouwer, A P M
- Ruivenkamp, C
- Gijsbers, A C J
- Marcelis, C L
- de Leeuw, N
- Veltman, J A
- Brunner, H G
- de Vries, B B A
Producer: 20110524
In:
Clinical genetics vol. 79
Availability: No items available.
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8.
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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. [electronic resource] by
- Kleefstra, T
- Smidt, M
- Banning, M J G
- Oudakker, A R
- Van Esch, H
- de Brouwer, A P M
- Nillesen, W
- Sistermans, E A
- Hamel, B C J
- de Bruijn, D
- Fryns, J-P
- Yntema, H G
- Brunner, H G
- de Vries, B B A
- van Bokhoven, H
Producer: 20060803
In:
Journal of medical genetics vol. 42
Availability: No items available.
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9.
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. [electronic resource] by
- Lugtenberg, D
- de Brouwer, A P M
- Kleefstra, T
- Oudakker, A R
- Frints, S G M
- Schrander-Stumpel, C T R M
- Fryns, J P
- Jensen, L R
- Chelly, J
- Moraine, C
- Turner, G
- Veltman, J A
- Hamel, B C J
- de Vries, B B A
- van Bokhoven, H
- Yntema, H G
Producer: 20060616
In:
Journal of medical genetics vol. 43
Availability: No items available.
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10.
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. [electronic resource] by
- Møller, R S
- Jensen, L R
- Maas, S M
- Filmus, J
- Capurro, M
- Hansen, C
- Marcelis, C L M
- Ravn, K
- Andrieux, J
- Mathieu, M
- Kirchhoff, M
- Rødningen, O K
- de Leeuw, N
- Yntema, H G
- Froyen, G
- Vandewalle, J
- Ballon, K
- Klopocki, E
- Joss, S
- Tolmie, J
- Knegt, A C
- Lund, A M
- Hjalgrim, H
- Kuss, A W
- Tommerup, N
- Ullmann, R
- de Brouwer, A P M
- Strømme, P
- Kjaergaard, S
- Tümer, Z
- Kleefstra, T
Producer: 20140530
In:
Human genetics vol. 133
Availability: No items available.
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11.
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Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. [electronic resource] by
- Riazuddin, S
- Hussain, M
- Razzaq, A
- Iqbal, Z
- Shahzad, M
- Polla, D L
- Song, Y
- van Beusekom, E
- Khan, A A
- Tomas-Roca, L
- Rashid, M
- Zahoor, M Y
- Wissink-Lindhout, W M
- Basra, M A R
- Ansar, M
- Agha, Z
- van Heeswijk, K
- Rasheed, F
- Van de Vorst, M
- Veltman, J A
- Gilissen, C
- Akram, J
- Kleefstra, T
- Assir, M Z
- Grozeva, D
- Carss, K
- Raymond, F L
- O'Connor, T D
- Riazuddin, S A
- Khan, S N
- Ahmed, Z M
- de Brouwer, A P M
- van Bokhoven, H
- Riazuddin, S
Publication details: Molecular psychiatry Nov 2020
In:
Molecular psychiatry vol. 25
Availability: No items available.
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12.
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. [electronic resource] by
- Riazuddin, S
- Hussain, M
- Razzaq, A
- Iqbal, Z
- Shahzad, M
- Polla, D L
- Song, Y
- van Beusekom, E
- Khan, A A
- Tomas-Roca, L
- Rashid, M
- Zahoor, M Y
- Wissink-Lindhout, W M
- Basra, M A R
- Ansar, M
- Agha, Z
- van Heeswijk, K
- Rasheed, F
- Van de Vorst, M
- Veltman, J A
- Gilissen, C
- Akram, J
- Kleefstra, T
- Assir, M Z
- Grozeva, D
- Carss, K
- Raymond, F L
- O'Connor, T D
- Riazuddin, S A
- Khan, S N
- Ahmed, Z M
- de Brouwer, A P M
- van Bokhoven, H
- Riazuddin, S
Producer: 20180305
In:
Molecular psychiatry vol. 22
Availability: No items available.
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13.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. [electronic resource] by
- Hu, H
- Haas, S A
- Chelly, J
- Van Esch, H
- Raynaud, M
- de Brouwer, A P M
- Weinert, S
- Froyen, G
- Frints, S G M
- Laumonnier, F
- Zemojtel, T
- Love, M I
- Richard, H
- Emde, A-K
- Bienek, M
- Jensen, C
- Hambrock, M
- Fischer, U
- Langnick, C
- Feldkamp, M
- Wissink-Lindhout, W
- Lebrun, N
- Castelnau, L
- Rucci, J
- Montjean, R
- Dorseuil, O
- Billuart, P
- Stuhlmann, T
- Shaw, M
- Corbett, M A
- Gardner, A
- Willis-Owen, S
- Tan, C
- Friend, K L
- Belet, S
- van Roozendaal, K E P
- Jimenez-Pocquet, M
- Moizard, M-P
- Ronce, N
- Sun, R
- O'Keeffe, S
- Chenna, R
- van Bömmel, A
- Göke, J
- Hackett, A
- Field, M
- Christie, L
- Boyle, J
- Haan, E
- Nelson, J
- Turner, G
- Baynam, G
- Gillessen-Kaesbach, G
- Müller, U
- Steinberger, D
- Budny, B
- Badura-Stronka, M
- Latos-Bieleńska, A
- Ousager, L B
- Wieacker, P
- Rodríguez Criado, G
- Bondeson, M-L
- Annerén, G
- Dufke, A
- Cohen, M
- Van Maldergem, L
- Vincent-Delorme, C
- Echenne, B
- Simon-Bouy, B
- Kleefstra, T
- Willemsen, M
- Fryns, J-P
- Devriendt, K
- Ullmann, R
- Vingron, M
- Wrogemann, K
- Wienker, T F
- Tzschach, A
- van Bokhoven, H
- Gecz, J
- Jentsch, T J
- Chen, W
- Ropers, H-H
- Kalscheuer, V M
Producer: 20160916
In:
Molecular psychiatry vol. 21
Availability: No items available.
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