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GLI3 is rarely implicated in OFD syndromes with midline abnormalities. [electronic resource] by
- Avila, M
- Gigot, N
- Aral, B
- Callier, P
- Gautier, E
- Thevenon, J
- Pasquier, L
- Lopez, E
- Gueneau, L
- Duplomb, L
- Goldenberg, A
- Baumann, C
- Cormier, V
- Marlin, S
- Masurel-Paulet, A
- Huet, F
- Attié-Bitach, T
- Faivre, L
- Thauvin-Robinet, C
Producer: 20120531
In:
Human mutation vol. 32
Availability: No items available.
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631.
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632.
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A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. [electronic resource] by
- Mohamoud, Hussein Sheikh
- Ahmed, Saleem
- Jelani, Musharraf
- Alrayes, Nuha
- Childs, Kay
- Vadgama, Nirmal
- Almramhi, Mona Mohammad
- Al-Aama, Jumana Yousuf
- Goodbourn, Steve
- Nasir, Jamal
Producer: 20181211
In:
Scientific reports vol. 8
Availability: No items available.
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