EP08.24: Malformations of cortical development: from prenatal diagnosis to postnatal outcome von Garofalo, G., Marangoni, M., Jansen, A., Stouffs, K., Désir, J., Cassart, M.

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Array comparative genomic hybridization in male infertility von Stouffs, K., Vandermaelen, D., Massart, A., Menten, B., Vergult, S., Tournaye, H., Lissens, W.

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Are AZFb deletions always incompatible with sperm production? von Stouffs, K., Vloeberghs, V., Gheldof, A., Tournaye, H., Seneca, S.

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Expanding the clinical spectrum of biallelic ZNF335 variants von Stouffs, K., Stergachis, A.B., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., Bodamer, O., Keymolen, K., Seneca, S., Liebaers, I., Jayaraman, D., Hill, H.E., Partlow, J.N., Walsh, C.A., Jansen, A.C.

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A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons von Schoutteten, M K, Bravenboer, B, Seneca, S, Stouffs, K, Velkeniers, B

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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation von Grodecká, L., Kováčová, T., Kramárek, M., Seneca, S., Stouffs, K., De Laet, C., Majer, F., Kršjaková, T., Hujová, P., Hrnčířová, K., Souček, P., Lissens, W., Buratti, E., Freiberger, Tomas

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Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages von Stouffs, K, Vandermaelen, D, Tournaye, H, Liebaers, I, Lissens, W

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Complex phenotype associated with mutation in the TANGO2 gene von De Meirleir, L, D'Hooghe, M, De Rademaeker, M, Stouffs, K, Geldhof, A, Seneca, S

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PP05.6 – 2896: Genotype-phenotype correlations and counseling in carriers of Filamin A gene mutations von Keymolen, K, Stouffs, K, Gheldof, A, Seneca, S, Vanderhasselt, T, Jansen, A

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P137 – 2976: Two cases of Noonan syndrome: Genotype–phenotype correlation von De Rademaeker, M, Jansen, A, Gies, I, Matthijs, G, Caljon, B, Stouffs, K, Keymolen, K

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OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy von Jansen, A, Ceuterick-de Groote, C, Vanderhasselt, T, Seneca, S, Stouffs, K, De Meirleir, L

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The role of the testis-specific gene hTAF7L in the aetiology of male infertility von Stouffs, K., Willems, A., Lissens, W., Tournaye, H., Van Steirteghem, A., Liebaers, I.

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PB0986 Genotype-Phenotype Correlation in Belgian Patients with Inherited Protein C Deficiency von Bouteille, S., Stouffs, K., Jochmans, K., Orlando, C.

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Expression pattern of the Y‐linked PRY gene suggests a function in apoptosis but not in spermatogenesis von Stouffs, Katrien, Lissens, Willy, Verheyen, Greta, Van Landuyt, Lisbet, Goossens, Annieta, Tournaye, Herman, Van Steirteghem, André, Liebaers, Inge

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O-184 Maternally inherited differences in mitochondrial DNA genotype between ART and spontaneously conceived individuals associate with low birthweight von Mertens, J, Belva, F, Van Montfoort, A, Zambelli, F, Seneca, S, Couvreu de Deckersberg, E, Bonduelle, M, Tournaye, H, Stouffs, K, Barbé, K, Smeets, H, Van de Velde, H, Sermon, K, Blockeel, C, Spits, C

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Male infertility and the involvement of the X chromosome von Stouffs, Katrien, Tournaye, Herman, Liebaers, Inge, Lissens, Willy

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OC 17.3 Prothrombotic Polymorphisms FV Leiden and Prothrombin G20210A in 699 Unrelated Patients with Congenital Antithrombin Deficiency: More than a Prognostic Value von Bravo Perez, C., Orlando, C., Gindele, R., Cifuentes, R., Stouffs, K., Ilonczai, P., de la Morena-Barrio, M., Schlammadinger, Á., Pfliegler, G., Corral, J., Jochmans, K., Bereczky, Z.

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Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly von Stouffs, K, VERLOO, PATRICK, Brock, S, Régal, L, Beysen, D, Ceulemans, B, Jansen, AC, MEC, Meuwissen

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Are AZF b deletions always incompatible with sperm production? von Stouffs, K., Vloeberghs, V., Gheldof, A., Tournaye, H., Seneca, S.

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Possible role of USP26 in patients with severely impaired spermatogenesis von STOUFFS, Katrien, LISSENS, Willy, TOURNAYE, Herman, VAN STEIRTEGHEM, André, LIEBAERS, Inge

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