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Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances. [electronic resource] by
- Daniel, Art
- Baker, Elizabeth
- Chia, Nicole
- Haan, Eric
- Malafiej, Paul
- Hinton, Lyn
- Clarke, Nigel
- Adès, Lesley
- Darmanian, Artur
- Callen, David
Producer: 20030520
In:
American journal of medical genetics. Part A vol. 117A
Availability: No items available.
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Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. [electronic resource] by
- Maclean, Kenneth
- Smith, James
- St Heaps, Luke
- Chia, Nicole
- Williams, Rebecca
- Peters, Gregory B
- Onikul, Ella
- McCrossin, Tim
- Lehmann, Ordan J
- Adès, Lesley C
Producer: 20050418
In:
American journal of medical genetics. Part A vol. 132A
Availability: No items available.
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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. [electronic resource] by
- Gold, Wendy A
- Sobreira, Nara
- Wiame, Elsa
- Marbaix, Alexandre
- Van Schaftingen, Emile
- Franzka, Patricia
- Riley, Lisa G
- Worgan, Lisa
- Hübner, Christian A
- Christodoulou, John
- Adès, Lesley C
Producer: 20171201
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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