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Author/Creator Mina, Kym

1. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. (6th April 2015)

Authors:
Baynam, Gareth; Overkov, Angela; Davis, Mark; Mina, Kym; Schofield, Lyn; Allcock, Richard; Laing, Nigel; Cook, Matthew; Dawkins, Hugh; Goldblatt, Jack
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1659
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. Issue 2 (25th April 2021)

Authors:
McKenzie, Fiona; Mina, Kym; Callewaert, Bert; Beyens, Aude; Dickinson, Jan E.; Jevon, Gareth; Papadimitriou, John; Diness, Birgitte Rode; Steensberg, Jesper Norman; Ek, Jakob; Baynam, Gareth
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
168
Record Type:
Journal Article
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4. Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. Issue 3 (9th March 2020)

Authors:
Beecroft, Sarah J.; Yau, Kyle S.; Allcock, Richard J. N.; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J.; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael M.; Cabrera‐Serrano, Macarena; Nowak, Kristen J.; Pachter, Nicholas; Ravensc...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 3(2020)
Page Start:
353
Record Type:
Journal Article
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6. The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service. Issue 1 (December 2016)

Authors:
Baynam, Gareth; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharon; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Broley, Stephanie; Schofield, Lyn; Verhoef, Hedwig; Walker, Caroline; Molster, Caron; Blackwell, Jenefer; Jamieson, Sarra; Tang, Dave; Lassmann, Timo; Mina, K...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗