Works matching AU Liebelt, Jan

Results: 12
    1

    Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
    By:
    • Gardner, Jessica C.;
    • Liew, Gerald;
    • Quan, Ying‐Hua;
    • Ermetal, Burcu;
    • Ueyama, Hisao;
    • Davidson, Alice E.;
    • Schwarz, Nele;
    • Kanuga, Naheed;
    • Chana, Ravinder;
    • Maher, Eamonn R.;
    • Webster, Andrew R.;
    • Holder, Graham E.;
    • Robson, Anthony G.;
    • Cheetham, Michael E.;
    • Liebelt, Jan;
    • Ruddle, Jonathan B.;
    • Moore, Anthony T.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.
    Publication type:
    Article
    2

    Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.

    Published in:
    Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538
    By:
    • Sukalo, Maja;
    • Fiedler, Ariane;
    • Guzmán, Celina;
    • Spranger, Stephanie;
    • Addor, Marie ‐ Claude;
    • Mcheik, Jiad N.;
    • Oltra Benavent, Manuel;
    • Cobben, Jan M.;
    • Gillis, Lynette A.;
    • Shealy, Amy G.;
    • Deshpande, Charu;
    • Bozorgmehr, Bita;
    • Everman, David B.;
    • Stattin, Eva ‐ Lena;
    • Liebelt, Jan;
    • Keller, Klaus ‐ Michael;
    • Bertola, Débora Romeo;
    • Karnebeek, Clara D.M.;
    • Bergmann, Carsten;
    • Liu, Zhifeng
    Publication type:
    Article
    3
    4
    5

    Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 24, doi. 10.1002/ajmg.b.32114
    By:
    • Nicholl, Jillian;
    • Waters, Wendy;
    • Suwalski, Shanna;
    • Brown, Sue;
    • Hull, Yvonne;
    • Harbord, Michael G.;
    • Entwistle, John;
    • Thompson, Suzanna;
    • Clark, Damian;
    • Pridmore, Claire;
    • Haan, Eric;
    • Barnett, Christopher;
    • McGregor, Lesley;
    • Liebelt, Jan;
    • Thompson, Elizabeth M.;
    • Friend, Kathryn;
    • Bain, Sharon M.;
    • Yu, Sui;
    • Mulley, John C.
    Publication type:
    Article
    6

    Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

    Published in:
    Prenatal Diagnosis, 2008, v. 28, n. 11, p. 993, doi. 10.1002/pd.2088
    By:
    • Simon-Bouy, Brigitte;
    • Taillandier, Agnès;
    • Fauvert, Delphine;
    • Brun-Heath, Isabelle;
    • Serre, Jean-Louis;
    • Armengod, Carmen G.;
    • Bialer, Martin G.;
    • Mathieu, Michèle;
    • Cousin, Jacques;
    • Chitayat, David;
    • Liebelt, Jan;
    • Feldman, Barbara;
    • Gérard-Blanluet, Marion;
    • Körtge-Jung, Stefani;
    • King, Cath;
    • Laivuori, Hannele;
    • Le Merrer, Martine;
    • Mehta, Sarju;
    • Jern, Christina;
    • Sharif, Saba
    Publication type:
    Article
    7
    8
    9

    Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

    Published in:
    Australian & New Zealand Journal of Obstetrics & Gynaecology, 2024, v. 64, n. 5, p. 467, doi. 10.1111/ajo.13814
    By:
    • Rogers, Alice;
    • De Jong, Lucas;
    • Waters, Wendy;
    • Rawlings, Lesley H.;
    • Simons, Keryn;
    • Gao, Song;
    • Soubrier, Julien;
    • Kenyon, Rosalie;
    • Lin, Ming;
    • King, Rob;
    • Lawrence, David M.;
    • Muller, Peter;
    • Leblanc, Shannon;
    • McGregor, Lesley;
    • Sallevelt, Suzanne C. E. H.;
    • Liebelt, Jan;
    • Hardy, Tristan S. E.;
    • Fletcher, Janice M.;
    • Scott, Hamish S.;
    • Kulkarni, Abhi
    Publication type:
    Article
    10

    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1781, doi. 10.3390/jpm12111781
    By:
    • Archibald, Alison D.;
    • McClaren, Belinda J.;
    • Caruana, Jade;
    • Tutty, Erin;
    • King, Emily A.;
    • Halliday, Jane L.;
    • Best, Stephanie;
    • Kanga-Parabia, Anaita;
    • Bennetts, Bruce H.;
    • Cliffe, Corrina C.;
    • Madelli, Evanthia O.;
    • Ho, Gladys;
    • Liebelt, Jan;
    • Long, Janet C.;
    • Braithwaite, Jeffrey;
    • Kennedy, Jillian;
    • Massie, John;
    • Emery, Jon D.;
    • McGaughran, Julie;
    • Marum, Justine E.
    Publication type:
    Article
    11
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