Works matching Mendelian genetics


Results: 1852
    1
    2
    3
    4

    Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0616-z
    By:
    • Walsh, Roddy;
    • Mazzarotto, Francesco;
    • Whiffin, Nicola;
    • Buchan, Rachel;
    • Midwinter, William;
    • Wilk, Alicja;
    • Li, Nicholas;
    • Felkin, Leanne;
    • Ingold, Nathan;
    • Govind, Risha;
    • Ahmad, Mian;
    • Mazaika, Erica;
    • Allouba, Mona;
    • Zhang, Xiaolei;
    • de Marvao, Antonio;
    • Day, Sharlene M.;
    • Ashley, Euan;
    • Colan, Steven D.;
    • Michels, Michelle;
    • Pereira, Alexandre C.
    Publication type:
    Article
    5
    6

    How is Mendelian Genetics Taught in Malawi?

    Published in:
    Science Education International, 2023, v. 34, n. 1, p. 25, doi. 10.33828/sei.v34.i1.3
    By:
    • Mbano, Nellie M.;
    • Chitundu, Pascal A.;
    • Nampota, Dorothy C.
    Publication type:
    Article
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    22
    23
    24
    25

    Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1378, doi. 10.1038/ejhg.2015.3
    By:
    • Franić, Sanja;
    • Groen-Blokhuis, Maria M;
    • Dolan, Conor V;
    • Kattenberg, Mathijs V;
    • Pool, René;
    • Xiao, Xiangjun;
    • Scheet, Paul A;
    • Ehli, Erik A;
    • Davies, Gareth E;
    • van der Sluis, Sophie;
    • Abdellaoui, Abdel;
    • Hansell, Narelle K;
    • Martin, Nicholas G;
    • Hudziak, James J;
    • van Beijsterveldt, Catherina E M;
    • Swagerman, Suzanne C;
    • Hulshoff Pol, Hilleke E;
    • de Geus, Eco J C;
    • Bartels, Meike;
    • Ropers, H Hilger
    Publication type:
    Article
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42

    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

    Published in:
    Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209
    By:
    • Cummings, Beryl B.;
    • Marshall, Jamie L.;
    • Tukiainen, Taru;
    • Lek, Monkol;
    • Donkervoort, Sandra;
    • Foley, A. Reghan;
    • Bolduc, Veronique;
    • Waddell, Leigh B.;
    • Sandaradura, Sarah A.;
    • O'Grady, Gina L.;
    • Estrella, Elicia;
    • Reddy, Hemakumar M.;
    • Zhao, Fengmei;
    • Weisburd, Ben;
    • Karczewski, Konrad J.;
    • O'Donnell-Luria, Anne H.;
    • Birnbaum, Daniel;
    • Sarkozy, Anna;
    • Ying Hu;
    • Gonorazky, Hernan
    Publication type:
    Article
    43
    44
    45
    48
    49
    50