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Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome? [electronic resource] by
- Hastings, Rob
- Harding, David
- Donaldson, Alan
- Liebling, Rachel
- Hayes, Alison
- Kraus, Alison
- Joss, Shelagh
- Narayanaswamy, Shuba
- Turnpenny, Peter
- Smithson, Sarah
Producer: 20100127
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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7.
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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. [electronic resource] by
- Hastings, Rob
- Cobben, Jan-Maarten
- Gillessen-Kaesbach, Gabriele
- Goodship, Judith
- Hove, Hanne
- Kjaergaard, Susanne
- Kemp, Helena
- Kingston, Helen
- Lunt, Peter
- Mansour, Sahar
- McGowan, Ruth
- Metcalfe, Kay
- Murdoch-Davis, Catherine
- Ray, Mary
- Rio, Marlène
- Smithson, Sarah
- Tolmie, John
- Turnpenny, Peter
- van Bon, Bregje
- Wieczorek, Dagmar
- Newbury-Ecob, Ruth
Producer: 20110801
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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8.
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. [electronic resource] by
- Németh, Andrea H
- Kwasniewska, Alexandra C
- Lise, Stefano
- Parolin Schnekenberg, Ricardo
- Becker, Esther B E
- Bera, Katarzyna D
- Shanks, Morag E
- Gregory, Lorna
- Buck, David
- Zameel Cader, M
- Talbot, Kevin
- de Silva, Rajith
- Fletcher, Nicholas
- Hastings, Rob
- Jayawant, Sandeep
- Morrison, Patrick J
- Worth, Paul
- Taylor, Malcolm
- Tolmie, John
- O'Regan, Mary
- Valentine, Ruth
- Packham, Emily
- Evans, Julie
- Seller, Anneke
- Ragoussis, Jiannis
Producer: 20131125
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. [electronic resource] by
- Hoischen, Alexander
- van Bon, Bregje W M
- Rodríguez-Santiago, Benjamín
- Gilissen, Christian
- Vissers, Lisenka E L M
- de Vries, Petra
- Janssen, Irene
- van Lier, Bart
- Hastings, Rob
- Smithson, Sarah F
- Newbury-Ecob, Ruth
- Kjaergaard, Susanne
- Goodship, Judith
- McGowan, Ruth
- Bartholdi, Deborah
- Rauch, Anita
- Peippo, Maarit
- Cobben, Jan M
- Wieczorek, Dagmar
- Gillessen-Kaesbach, Gabriele
- Veltman, Joris A
- Brunner, Han G
- de Vries, Bert B B A
Producer: 20111003
In:
Nature genetics vol. 43
Availability: No items available.
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