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Author/Creator Scott, Hamish S

2. Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. Issue 5 (May 2017)

Authors:
De Sousa, Sunita M C; McCabe, Mark J; Wu, Kathy; Roscioli, Tony; Gayevskiy, Velimir; Brook, Katelyn; Rawlings, Lesley; Scott, Hamish S; Thompson, Tanya J; Earls, Peter; Gill, Anthony J; Cowley, Mark J; Dinger, Marcel E; McCormack, Ann I
Journal:
European journal of endocrinology
Issue:
Volume 176:Issue 5(2017)
Page Start:
635
Record Type:
Journal Article
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3. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. Issue 7 (27th January 2020)

Authors:
Byrne, Alicia B; Mizumoto, Shuji; Arts, Peer; Yap, Patrick; Feng, Jinghua; Schreiber, Andreas W; Babic, Milena; King-Smith, Sarah L; Barnett, Christopher P; Moore, Lynette; Sugahara, Kazuyuki; Mutlu-Albayrak, Hatice; Nishimura, Gen; Liebelt, Jan E; Yamada, Shuhei; Savarirayan, Ravi; Scott, Hamish S
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 7(2020)
Page Start:
454
Record Type:
Journal Article
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4. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021)

Authors:
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 5(2022)
Page Start:
511
Record Type:
Journal Article
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5. The clinical and genetic features of hereditary pancreatitis in South Australia. Issue 11 (16th May 2022)

Authors:
Wu, Denghao; Bampton, Tristan J; Scott, Hamish S; Brown, Alex; Kassahn, Karin; Drogemuller, Christopher; De Sousa, Sunita MC; Moore, David; Ha, Thuong; Chen, John WC; Khurana, Sanjeev; Torpy, David J; Radford, Toni; Couper, Richard; Palmer, Lyle; Coates, P Toby
Journal:
Medical journal of Australia
Issue:
Volume 216:Issue 11(2022)
Page Start:
578
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗