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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Published in:
2015
By:
- Todd, Emily J.;
- Yau, Kyle S.;
- Ong, Royston;
- Slee, Jennie;
- McGillivray, George;
- Barnett, Christopher P.;
- Haliloglu, Goknur;
- Talim, Beril;
- Akcoren, Zuhal;
- Kariminejad, Ariana;
- Cairns, Anita;
- Clarke, Nigel F.;
- Freckmann, Mary-Louise;
- Romero, Norma B.;
- Williams, Denise;
- Sewry, Caroline A.;
- Colley, Alison;
- Ryan, Monique M.;
- Kiraly-Borri, Cathy;
- Sivadorai, Padma
Publication type:
journal article
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
Published in:
2010
By:
- Pinner, Jason R.;
- Freckmann, Mary-Louise;
- Kirk, Edwin P.;
- Yoshino, Makoto
Publication type:
journal article
Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
Published in:
Journal of Paediatrics & Child Health, 2011, v. 47, n. 1/2, p. 64, doi. 10.1111/j.1440-1754.2010.01737.x
By:
- Chaudhari, Tejasvi;
- Todd, David A;
- Kent, Alison L;
- Dopita, Belinda;
- Hallam, Lavinia;
- Freckmann, Mary-Louise;
- Johnston, Heather M
Publication type:
Article
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Published in:
Journal of Paediatrics & Child Health, 2022, v. 58, n. 1, p. 8, doi. 10.1111/jpc.15703
By:
- Shah, Margit;
- Selvanathan, Arthavan;
- Baynam, Gareth;
- Berman, Yemima;
- Boughtwood, Tiffany;
- Freckmann, Mary‐Louise;
- Parasivam, Gayathri;
- White, Susan M;
- Grainger, Natalie;
- Kirk, Edwin P;
- Ma, Alan SL;
- Sachdev, Rani
Publication type:
Article
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Published in:
Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382
By:
- Sachdev, Rani;
- Field, Mike;
- Baynam, Gareth S;
- Beilby, John;
- Berarducci, Maria;
- Berman, Yemima;
- Boughtwood, Tiffany;
- Cusack, Marie B;
- Fitzgerald, Vanessa;
- Fletcher, Jeffery;
- Freckmann, Mary‐Louise;
- Grainger, Natalie;
- Kirk, Edwin;
- Lundie, Ben;
- Lunke, Sebastian;
- McGregor, Lesley;
- Mowat, David;
- Parasivam, Gayathri;
- Tyrell, Vanessa;
- Wallis, Mathew
Publication type:
Article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Published in:
2014
By:
- Van Scherpenzeel, Monique;
- Timal, Sharita;
- Rymen, Daisy;
- Hoischen, Alexander;
- Wuhrer, Manfred;
- Hipgrave-Ederveen, Agnes;
- Grunewald, Stephanie;
- Peanne, Romain;
- Saada, Ann;
- Edvardson, Shimon;
- Grønborg, Sabine;
- Ruijter, George;
- Kattentidt-Mouravieva, Anna;
- Brum, Jaime Moritz;
- Freckmann, Mary-Louise;
- Tomkins, Susan;
- Jalan, Anil;
- Prochazkova, Dagmar;
- Ondruskova, Nina;
- Hansikova, Hana
Publication type:
journal article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1030, doi. 10.1093/brain/awu019
By:
- Van Scherpenzeel, Monique;
- Timal, Sharita;
- Rymen, Daisy;
- Hoischen, Alexander;
- Wuhrer, Manfred;
- Hipgrave-Ederveen, Agnes;
- Grunewald, Stephanie;
- Peanne, Romain;
- Saada, Ann;
- Edvardson, Shimon;
- Grønborg, Sabine;
- Ruijter, George;
- Kattentidt-Mouravieva, Anna;
- Brum, Jaime Moritz;
- Freckmann, Mary-Louise;
- Tomkins, Susan;
- Jalan, Anil;
- Prochazkova, Dagmar;
- Ondruskova, Nina;
- Hansikova, Hana
Publication type:
Article
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 366, doi. 10.1093/brain/awt328
By:
- Baker, Peter R.;
- Friederich, Marisa W.;
- Swanson, Michael A.;
- Shaikh, Tamim;
- Bhattacharya, Kaustuv;
- Scharer, Gunter H.;
- Aicher, Joseph;
- Creadon-Swindell, Geralyn;
- Geiger, Elizabeth;
- MacLean, Kenneth N.;
- Lee, Wang-Tso;
- Deshpande, Charu;
- Freckmann, Mary-Louise;
- Shih, Ling-Yu;
- Wasserstein, Melissa;
- Rasmussen, Malene B.;
- Lund, Allan M.;
- Procopis, Peter;
- Cameron, Jessie M.;
- Robinson, Brian H.
Publication type:
Article
Azoospermia and paternal autosomal ring chromosomes: case report and literature review.
Published in:
2011
By:
- Rajesh, Hemashree;
- Freckmann, Mary-Louise;
- Chapman, Michael
Publication type:
Case Study
<i>Cauli</i>: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome.
Published in:
PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003746
By:
- Miller, Kerry A.;
- Ah-Cann, Casey J.;
- Welfare, Megan F.;
- Tan, Tiong Y.;
- Pope, Kate;
- Caruana, Georgina;
- Freckmann, Mary-Louise;
- Savarirayan, Ravi;
- Bertram, John F.;
- Dobbie, Michael S.;
- Bateman, John F.;
- Farlie, Peter G.
Publication type:
Article
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
Published in:
Annals of Neurology, 2000, v. 48, n. 1, p. 102, doi. 10.1002/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M
By:
- Kirby, Denise M.;
- Kahler, Stephen G.;
- Freckmann, Mary-Louise;
- Reddihough, Dinah;
- Thorburn, David R.
Publication type:
Article

Found: 11