Pathophysiology of impaired ovarian function in galactosaemia von Forges, T., Monnier-Barbarino, P., Leheup, B., Jouvet, P.

Volltext

Autoimmunity and antigenic targets in ovarian pathology von Forges, T., Monnier‐Barbarino, P., Faure, G.C., Béné, M.C.

Volltext

Galactosémies et insuffisance ovarienne prématurée von Forges, T

Volltext

Expression of sex hormone-binding globulin (SHBG) in human granulosa-lutein cells von Forges, T, Gérard, A, Hess, K, Monnier-Barbarino, P, Gérard, H

Volltext

Immunolocalization of sex hormone-binding globulin (SHBG) in human ovarian follicles and corpus luteum von Forges, T, Gérard, A, Monnier-Barbarino, P, Gérard, H

Volltext

L'insuffisance ovarienne prématurée dans la galactosémie congénitale : physiopathologie et prise en charge von Forges, T, Monnier-Barbarino, P

Volltext

Do folates have an impact on fertility? von Forges, T, Pellanda, H, Diligent, C, Monnier, P, Guéant, J-L

Volltext

A case of eosinophil peroxidase deficiency von KUTTER, D, MUELLER-HAGEDORN, S, FORGES, T, GLAESENER, R

Volltext

Gonadal antibodies interfering with female reproduction von Monnier-Barbarino, Patricia, Forges, Thierry, Faure, Gilbert C., Béné, Marie Christine

Volltext

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy von Brodehl, Andreas, Ferrier, Raechel A., Hamilton, Sara J., Greenway, Steven C., Brundler, Marie-Anne, Yu, Weiming, Gibson, William T., McKinnon, Margaret L., McGillivray, Barbara, Alvarez, Nanette, Giuffre, Michael, Schwartzentruber, Jeremy, Gerull, Brenda

Volltext

Identification of infrasound produced by sprites during the Sprite2003 campaign von FORGES, T, BLANC, E, LE PICHON, A, NEUBERT, T, ALLIN, T. H

Volltext

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway von Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

Volltext

Mutations in EZH2 Cause Weaver Syndrome von Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.

Volltext

Mutations in PIK3R1 Cause SHORT Syndrome von Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil

Volltext

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome von Demos, Michelle K, van Karnebeek, Clara Dm, Ross, Colin Jd, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven Jm, Friedman, Jan M

Volltext

Premature ovarian failure in galactosaemia: pathophysiology and clinical management von Forges, T, Monnier-Barbarino, P

Volltext

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome von Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G

Volltext

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

Volltext

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia von Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.

Volltext

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

Volltext