Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations von Di Donato, N, Rump, A, Koenig, R, Der Kaloustian, V M, Halal, F, Sonntag, K, Krause, C, Hackmann, K, Hahn, G, Schrock, E, Verloes, A

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Bowel endometriosis ‘3D’: the essential for bowel resection – a video vignette von Di Donato, N., Seracchioli, R.

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Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia von Polubothu, S., Abdin, D., Barysch, M., Thomas, A., Bulstrode, N., Evans, R., Solman, L., Obwegeser, J., Hennekam, R.C., Weibel, L., Calder, A., Di Donato, N., Kinsler, V.A.

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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes von Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

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Comparison of transvaginal sonography and double‐contrast barium enema for diagnosing deep infiltrating endometriosis of the posterior compartment von Savelli, L., Manuzzi, L., Coe, M., Mabrouk, M., Di Donato, N., Venturoli, S., Seracchioli, R.

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Endometriosis of the abdominal wall: ultrasonographic and Doppler characteristics von Savelli, L., Manuzzi, L., Di Donato, N., Salfi, N., Trivella, G., Ceccaroni, M., Seracchioli, R.

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Distinct phenotype of PHF6 deletions in females von Di Donato, N, Isidor, B, Lopez Cazaux, S, Le Caignec, C, Klink, B, Kraus, C, Schrock, E, Hackmann, K

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Question mark form of uterus: a simple sonographic sign associated with the presence of adenomyosis von Di Donato, N., Bertoldo, V., Montanari, G., Zannoni, L., Caprara, G., Seracchioli, R.

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Histological evaluation of ureteral involvement in women with deep infiltrating endometriosis: analysis of a large series von Seracchioli, R., Raimondo, D., Di Donato, N., Leonardi, D., Spagnolo, E., Paradisi, R., Montanari, G., Caprara, G., Zannoni, L.

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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations von Di Donato, N, Rump, A, Koenig, R, Der Kaloustian, V M, Halal, F, Sonntag, K, Krause, C, Hackmann, K, Hahn, G, Schrock, E, Verloes, A

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PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome von Abdin, D., Rump, A., Tzschach, A., Sarnow, K., Schröck, E., Hackmann, K., Di Donato, N.

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Controversies in Surgical Staging of Endometrial Cancer von Seracchioli, R., Solfrini, S., Mabrouk, M., Facchini, C., Di Donato, N., Manuzzi, L., Savelli, L., Venturoli, S.

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Recurrent de novo BICD2 mutation associated with severe arthrogryposis and polymicrogyria: Expanding the phenotype von Ravenscroft, G, Di Donato, N, Davis, M, Craven, P, Poke, G, Neas, K, Neuhann, T, Dobyns, W, Laing, N

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Interstitial deletion 1p36.32 in two brothers with a distinct phenotype – Overgrowth, macrocephaly and nearly normal intellectual function von Di Donato, N, Klink, B, Hahn, G, Schrock, E, Hackmann, K

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The Role of Ovaropexy on Reducing Post-Surgical Ovarian Adhesions in Women with Severe Endometriosis: A Randomized, Controlled Study von Di Donato, N, Bertoldo, V, Vicenzi, C, Benfenati, A, Giovanardi, G, Leonardi, D, Monti, G, Seracchioli, R

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Laparoscopic management of early stage ovarian cancer: is it feasible, safe, and adequate? A retrospective study von Montanari, G, Di Donato, N, Del Forno, S, Benfenati, A, Bertoldo, V, Vincenzi, C, Casadio, P, Seracchioli, R

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A further patient with van Maldergem syndrome von Neuhann, T.M, Müller, D, Hackmann, K, Holzinger, S, Schrock, E, Di Donato, N

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Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome von Di Donato, N., Riess, A., Hackmann, K., Rump, A., Huebner, A., von der Hagen, M., Hahn, G., Schrock, E., Tinschert, S.

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M062 DOES COLO-RECTAL ENDOMETRIOSIS ALTER INTESTINAL FUNCTIONS? A PROSPECTIVE MANOMETRIC AND QUESTIONNAIRE-BASED STUDY von Ferrini, G., Raimondo, D., Giovanardi, G., Benfenati, A., Montanari, G., Di Donato, N., Mabrouk, M., Venturoli, S., Seracchioli, R.

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O184 QUALITY OF LIFE AND SEXUAL FUNCTION IN PATIENTS WITH DEEP INFILTRATING ENDOMETRIOSIS von Di Donato, N., Benfenati, A., Raimondo, D., Ferrini, G., Giovanardi, G., Montanari, G., Mabrouk, M., Venturoli, S., Seracchioli, R.

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