Leonie Menke

20082019

Research output per year

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Research Output

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R. D., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., 1 Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069

Research output: Contribution to journalArticleAcademicpeer-review

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Zollino, M., Zweier, C., van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., de Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F. & 12 others, Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., van Balkom, H., Whalen, S. & Hennekam, R. C., 1 Apr 2019, In : Clinical Genetics. 95, 4, p. 462-478

Research output: Contribution to journalReview articleAcademicpeer-review

Marfan syndrome in childhood: Parents' perspectives of the impact on daily functioning of children, parents and family; A qualitative study

Warnink-Kavelaars, J., Beelen, A., Dekker, S., Nollet, F., Menke, L. A. & Engelbert, R. H. H., 29 Jul 2019, In : BMC Pediatrics. 19, 1, 262.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician

Lauffer, P., Kamp, G. A., Menke, L. A., Wit, J. M. & Oostdijk, W., Sep 2019, In : Hormone Research in Paediatrics. 91, 5, p. 293-310

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

Menke, L. A., Poll-The, B. T., Clur, S-A., Bilardo, C. M., van der Wal, A. C., Lemmink, H. H. & Cobben, J. M., 2008, In : American Journal of Medical Genetics, Part A. 146, 6, p. 740-744

Research output: Contribution to journalArticleAcademicpeer-review