Works matching DE "HUMAN abnormality genetics"

Results: 226
    1
    2

    Sanjad Sakati syndrome: a case series from Jordan.

    Published in:
    Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527
    By:
    • Albaramki, J.;
    • Akl, K.;
    • Al- Muhtaseb, A.;
    • Al-Shboul, M.;
    • Mahmoud, T.;
    • El-Khateeb, M.;
    • Hamamy, H.
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12

    Genética de la obesidad.

    Published in:
    Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 6, p. 441
    By:
    • Tejero, María Elizabeth
    Publication type:
    Article
    13
    14
    15
    16

    Chaos in the embryo.

    Published in:
    Nature Medicine, 2009, v. 15, n. 5, p. 490, doi. 10.1038/nm0509-490
    By:
    • Ledbetter, David H.
    Publication type:
    Article
    17

    Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.

    Published in:
    Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
    By:
    • de Pontual, Loïc;
    • Yao, Evelyn;
    • Callier, Patrick;
    • Faivre, Laurence;
    • Drouin, Valérie;
    • Cariou, Sandra;
    • Van Haeringen, Arie;
    • Geneviève, David;
    • Goldenberg, Alice;
    • Oufadem, Myriam;
    • Manouvrier, Sylvie;
    • Munnich, Arnold;
    • Vidigal, Joana Alves;
    • Vekemans, Michel;
    • Lyonnet, Stanislas;
    • Henrion-Caude, Alexandra;
    • Ventura, Andrea;
    • Amiel, Jeanne
    Publication type:
    Article
    18

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
    By:
    • Bicknell, Louise S.;
    • Bongers, Ernie M. H. F.;
    • Leitch, Andrea;
    • Brown, Stephen;
    • Schoots, Jeroen;
    • Harley, Margaret E.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • Bober, Michael;
    • Brown, Paul A. J.;
    • van Bokhoven, Hans;
    • Dean, John;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • Hoefsloot, Lies H;
    • Kau, Nikolaus;
    • Knoers, Nine V. A. M.;
    • MacKenzie, James;
    • Opitz, John M.
    Publication type:
    Article
    19

    Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777
    By:
    • Guernsey, Duane L.;
    • Matsuoka, Makoto;
    • Jiang, Haiyan;
    • Evans, Susan;
    • Macgillivray, Christine;
    • Nightingale, Mathew;
    • Perry, Scott;
    • Ferguson, Meghan;
    • LeBlanc, Marissa;
    • Paquette, Jean;
    • Patry, Lysanne;
    • Rideout, Andrea L.;
    • Thomas, Aidan;
    • Orr, Andrew;
    • McMaster, Chris R.;
    • Michaud, Jacques L.;
    • Deal, Cheri;
    • Langlois, Sylvie;
    • Superneau, Duane W.;
    • Parkash, Sandhya
    Publication type:
    Article
    20
    21
    22
    23
    24
    25

    A Note on Angiogenesis.

    Published in:
    Journal of Dermatologic Surgery & Oncology, 1978, v. 4, n. 11, p. 827, doi. 10.1111/j.1524-4725.1978.tb00559.x
    By:
    • Leider, Morris
    Publication type:
    Article
    26
    27
    28

    AutomiG, a Biosensor to Detect Alterations in miRNA Biogenesis and in Small RNA Silencing Guided by Perfect Target Complementarity.

    Published in:
    PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074296
    By:
    • Carré, Clément;
    • Jacquier, Caroline;
    • Bougé, Anne-Laure;
    • de Chaumont, Fabrice;
    • Besnard-Guerin, Corinne;
    • Thomassin, Hélène;
    • Pidoux, Josette;
    • Da Silva, Bruno;
    • Chalatsi, Eleftheria;
    • Zahra, Sarah;
    • Olivo-Marin, Jean-Christophe;
    • Munier-Lehmann, Hélène;
    • Antoniewski, Christophe
    Publication type:
    Article
    29
    30

    Adherent Monomer-Misfolded SOD1.

    Published in:
    PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003497
    By:
    • Watanabe, Yasuhiro;
    • Morita, Eri;
    • Fukada, Yasuyo;
    • Doi, Koji;
    • Yasui, Kenichi;
    • Kitayama, Michio;
    • Nakano, Toshiya;
    • Nakashima, Kenji
    Publication type:
    Article
    31

    The science bit.

    Published in:
    Nursing Standard, 2004, v. 18, n. 23, p. 23, doi. 10.7748/ns.18.23.23.s33
    By:
    • Newnham, David
    Publication type:
    Article
    32

    Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

    Published in:
    2018
    By:
    • Maruani, Annabel;
    • Boccara, Olivia;
    • Bessis, Didier;
    • Guibaud, Laurent;
    • Vabres, Pierre;
    • Mazereeuw-Hautier, Juliette;
    • Barbarot, Sébastien;
    • Chiaverini, Christine;
    • Blaise, Sophie;
    • Droitcourt, Catherine;
    • Mallet, Stéphanie;
    • Martin, Ludovic;
    • Lorette, Gérard;
    • Woillard, Jean-Baptiste;
    • Jonville-Bera, Annie-Pierre;
    • Rollin, Jérome;
    • Gruel, Yves;
    • Herbreteau, Denis;
    • Goga, Dominique;
    • le Touze, Anne
    Publication type:
    journal article
    33
    34
    35
    36
    37
    38
    39
    40

    Genetic studies of myelomeningocele.

    Published in:
    Child's Nervous System, 2013, v. 29, n. 9, p. 1417, doi. 10.1007/s00381-013-2197-2
    By:
    • Shimoji, Kazuaki;
    • Kimura, Takaoki;
    • Kondo, Akihide;
    • Tange, Yuichi;
    • Miyajima, Masakazu;
    • Arai, Hajime
    Publication type:
    Article
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50