Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia
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.
Published in British journal of dermatology (1951) (01.12.2020)
Published in British journal of dermatology (1951) (01.12.2020)
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Histological evaluation of ureteral involvement in women with deep infiltrating endometriosis: analysis of a large series
Seracchioli, R., Raimondo, D., Di Donato, N., Leonardi, D., Spagnolo, E., Paradisi, R., Montanari, G., Caprara, G., Zannoni, L.
Published in Human reproduction (Oxford) (01.04.2015)
Published in Human reproduction (Oxford) (01.04.2015)
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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
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.
Published in Journal of intellectual disability research (01.12.2020)
Published in Journal of intellectual disability research (01.12.2020)
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Real-time monitoring of breath ammonia during haemodialysis: use of ion mobility spectrometry (IMS) and cavity ring-down spectroscopy (CRDS) techniques
NERI, Giovanni, LACQUANITI, Antonio, RIZZO, Giuseppe, DONATO, Nicola, LATINO, Mariangela, BUEMI, Michele
Published in Nephrology, dialysis, transplantation (01.07.2012)
Published in Nephrology, dialysis, transplantation (01.07.2012)
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Journal Article
Endometriosis of the abdominal wall: ultrasonographic and Doppler characteristics
Savelli, L., Manuzzi, L., Di Donato, N., Salfi, N., Trivella, G., Ceccaroni, M., Seracchioli, R.
Published in Ultrasound in obstetrics & gynecology (01.03.2012)
Published in Ultrasound in obstetrics & gynecology (01.03.2012)
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Journal Article
p53 stabilization induces apoptosis in chronic myeloid leukemia blast crisis cells
Peterson, L F, Mitrikeska, E, Giannola, D, Lui, Y, Sun, H, Bixby, D, Malek, S N, Donato, N J, Wang, S, Talpaz, M
Published in Leukemia (01.05.2011)
Published in Leukemia (01.05.2011)
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Journal Article
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
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
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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Comparison of transvaginal sonography and double‐contrast barium enema for diagnosing deep infiltrating endometriosis of the posterior compartment
Savelli, L., Manuzzi, L., Coe, M., Mabrouk, M., Di Donato, N., Venturoli, S., Seracchioli, R.
Published in Ultrasound in obstetrics & gynecology (01.10.2011)
Published in Ultrasound in obstetrics & gynecology (01.10.2011)
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Journal Article
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome
Abdin, D., Rump, A., Tzschach, A., Sarnow, K., Schröck, E., Hackmann, K., Di Donato, N.
Published in European journal of medical genetics (01.12.2019)
Published in European journal of medical genetics (01.12.2019)
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Journal Article
A case report of a large placental lake in a woman affected by complex cardiac disease
Di Donato, N, Bartolini, L, Pilu, G, Rizzo, N
Published in Journal of obstetrics and gynaecology (02.04.2016)
Published in Journal of obstetrics and gynaecology (02.04.2016)
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Journal Article
ON012380, a putative BCR-ABL kinase inhibitor with a unique mechanism of action in imatinib-resistant cells
Wu, J, Meng, F, Ying, Y, Peng, Z, Daniels, L, Bornmann, W G, Quintás-Cardama, A, Roulston, D, Talpaz, M, Peterson, L F, Donato, N J
Published in Leukemia (01.04.2010)
Published in Leukemia (01.04.2010)
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Journal Article
Imatinib mesylate suppresses cytokine synthesis by activated CD4 T cells of patients with chronic myelogenous leukemia
GAO, H, LEE, B.-N, TALPAZ, M, DONATO, N. J, CORTES, J. E, KANTARJIAN, H. M, REUBEN, J. M
Published in Leukemia (01.11.2005)
Published in Leukemia (01.11.2005)
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Journal Article
Distinct phenotype of PHF6 deletions in females
Di Donato, N, Isidor, B, Lopez Cazaux, S, Le Caignec, C, Klink, B, Kraus, C, Schrock, E, Hackmann, K
Published in European journal of medical genetics (01.02.2014)
Published in European journal of medical genetics (01.02.2014)
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Journal Article
Laparoscopic management of early stage ovarian cancer: is it feasible, safe, and adequate? A retrospective study
Montanari, G, Di Donato, N, Del Forno, S, Benfenati, A, Bertoldo, V, Vincenzi, C, Casadio, P, Seracchioli, R
Published in European journal of gynaecological oncology (2013)
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Published in European journal of gynaecological oncology (2013)
Journal Article
A further patient with van Maldergem syndrome
Neuhann, T.M, Müller, D, Hackmann, K, Holzinger, S, Schrock, E, Di Donato, N
Published in European journal of medical genetics (01.06.2012)
Published in European journal of medical genetics (01.06.2012)
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