Zobrazeno 1 - 9
of 9
pro vyhledávání: '"WILLY NILLESEN"'
Autor:
Iffa Mutmainah, Willy Nillesen, Farmaditya Mundhofir, Tri Winarni, Ineke van der Burgt, Helger Yntema, Sultana Faradz
Publikováno v:
Paediatrica Indonesiana, Vol 56, Iss 1, Pp 62-6 (2016)
Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and sh
Externí odkaz:
https://doaj.org/article/c7bed8e85e94444dbb56a52b582962bd
Autor:
Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conv
Externí odkaz:
https://doaj.org/article/0163ba4678e74d62a4b59ec9eb76cb6c
Autor:
HAN G. BRUNNER, HUBERT J. M. SMEETS, WILLY NILLESEN, BERNARD A. VAN OOST, J. B. MARGO VAN DEN BIEZENBOS, ED M. G. JOOSTEN, ALFRED J. L. G. PINCKERS, BEN C. J. HAMEL, AD G. M. THEEUWES, BE WIERINGA, HANS-HILGER ROPERS
Publikováno v:
Brain : a journal of neurology. 114
Myotonic dystrophy (DM) is well known for its highly variable clinical picture, including the age at which symptoms are first detected. In order to assess the proportion of asymptomatic gene carriers at different ages, we have used linked DNA markers
Autor:
Mundhofir, Farmaditya E. P.1,2, Yntema, Helger G.2, van der Burgt, Ineke2, Hamel, Ben C. J.2, Faradz, Sultana M. H.1, van Bon, Bregje W. M.2 b.vanbon@gen.umcn.nl
Publikováno v:
Case Reports in Genetics. 2012, p1-3. 3p.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease.
Autor:
Nicole I. Wolf, Erik A. Sistermans, Maria Cundall, Grace M. Hobson, Angelique P. Davis-Williams, Rodger Palmer, Paula Stubbs, Sally Davies, Milda Endziniene, Yvonne Wu, Wui K. Chong, Sue Malcolm, Robert Surtees, James Y. Garbern, Karen J. Woodward
Publikováno v:
Brain: A Journal of Neurology; Apr2005, Vol. 128 Issue 4, p743-751, 9p
Autor:
Sengers, R. C. A., Lamers, K. J. B., Bakkeren, J. A. J. M., Schretlen, E. D. A. M., Trijbels, J. M. F.
Publikováno v:
Neuropädiatrie; 1975, Vol. 6 Issue 4, p377-382, 6p
Publikováno v:
Journal of Medical Genetics; Nov1992, Vol. 29 Issue 11, p780-784, 5p, 1 Diagram, 1 Chart, 2 Graphs
Autor:
Westphal, JR, van't Hullenaar, RGM, van der Laak, JAWM, Cornelissen, IMHA, Schalkwijk, LJM, van Muijen, GNP, Wesseling, P, de Wilde, PCM, Ruiter, DJ, de Waal, RMW, Westphal, J R, van't Hullenaar, R G, van der Laak, J A, Cornelissen, I M, Schalkwijk, L J, van Muijen, G N, de Wilde, P C, Ruiter, D J, de Waal, R M
Publikováno v:
British Journal of Cancer; Sep1997, Vol. 76 Issue 5, p561-570, 10p
High Lean Country captures the rich history and haunting character of the New England region of northern New South Wales.The authors explore how memory - of land, of family, of patterns of life on the other side of the world - has influenced the iden