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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. [electronic resource] by
- Xiol, Clara
- Vidal, Silvia
- Pascual-Alonso, Ainhoa
- Blasco, Laura
- Brandi, Núria
- Pacheco, Paola
- Gerotina, Edgar
- O'Callaghan, Mar
- Pineda, Mercè
- Armstrong, Judith
Producer: 20201102
In:
Scientific reports vol. 9
Availability: No items available.
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Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. [electronic resource] by
- Badens, C
- Lacoste, C
- Philip, N
- Martini, N
- Courrier, S
- Giuliano, F
- Verloes, A
- Munnich, A
- Leheup, B
- Burglen, L
- Odent, S
- Van Esch, H
- Levy, N
Producer: 20060928
In:
Clinical genetics vol. 70
Availability: No items available.
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. [electronic resource] by
- de Lange, Iris M
- Helbig, Katherine L
- Weckhuysen, Sarah
- Møller, Rikke S
- Velinov, Milen
- Dolzhanskaya, Natalia
- Marsh, Eric
- Helbig, Ingo
- Devinsky, Orrin
- Tang, Sha
- Mefford, Heather C
- Myers, Candace T
- van Paesschen, Wim
- Striano, Pasquale
- van Gassen, Koen
- van Kempen, Marjan
- de Kovel, Carolien G F
- Piard, Juliette
- Minassian, Berge A
- Nezarati, Marjan M
- Pessoa, André
- Jacquette, Aurelia
- Maher, Bridget
- Balestrini, Simona
- Sisodiya, Sanjay
- Warde, Marie Therese Abi
- De St Martin, Anne
- Chelly, Jamel
- van 't Slot, Ruben
- Van Maldergem, Lionel
- Brilstra, Eva H
- Koeleman, Bobby P C
Producer: 20170825
In:
Journal of medical genetics vol. 53
Availability: No items available.
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1217.
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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. [electronic resource] by
- Jorge, Paula
- Garcia, Elsa
- Gonçalves, Ana
- Marques, Isabel
- Maia, Nuno
- Rodrigues, Bárbara
- Santos, Helena
- Fonseca, Jacinta
- Soares, Gabriela
- Correia, Cecília
- Reis-Lima, Margarida
- Cirigliano, Vincenzo
- Santos, Rosário
Producer: 20190225
In:
BMC medical genetics vol. 19
Availability: No items available.
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