Zobrazeno 1 - 9
of 9
pro vyhledávání: '"J. Willem Delleman"'
Autor:
R.M. Broekhuyse, Elizabeth M. Bleeker-Wagemakers, Gijs F.J.M. Vrensen, Paul T.V.M. de Jong, Johanna D.R. Peereboom-Wynia, J. Willem Delleman
Publikováno v:
Ophthalmology. 97:1181-1187
A 7-year-old girl was found to have a progressive axial crystalline cataract located in the embryonal, fetal, and infantile nucleus. She also had the unknown association of crystalline cataract with uncombable hair. Samples of the aspirate after extr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f7c198a4f7af9f609d3d0ca7f8f9f75
https://doi.org/10.1016/s0161-6420(90)32438-7
https://doi.org/10.1016/s0161-6420(90)32438-7
Publikováno v:
Teratology. 15:195-198
Attention is drawn to the possibility that neural-tube defects may sometimes be associated with the so-called asplenia syndrome (Ivemark syndrome). This hypothesis is based upon a family in which one child had spina bifida and hydrocephaly and anothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b196ddf956c3b4c90e1600eaba87eeab
https://doi.org/10.1002/tera.1420150210
https://doi.org/10.1002/tera.1420150210
Publikováno v:
Ophthalmology. 87:793-804
Fifty-one members of four generations of a family with autosomal dominant olivopontocerebellar atrophy with decreased visual acuity were examined by an ophthalmologist and a neurologist. Twenty-two persons were affected ophthalmologically and 27 were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2bba07728713e0887f5d5856a6fce5de
https://doi.org/10.1016/s0161-6420(80)35160-9
https://doi.org/10.1016/s0161-6420(80)35160-9
Autor:
Paul Fleury, Bernard Verbeeten, Ivona M Frankenmolen-Witkiezwicz, Wim P de Groot, J Willem Delleman
Publikováno v:
Brain and Development. 2:107-117
In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8b6bd78e1a2aa89a47c59d4d08e2d9
https://doi.org/10.1016/s0387-7604(80)80031-3
https://doi.org/10.1016/s0387-7604(80)80031-3
Publikováno v:
American journal of ophthalmology. 95(4)
We conducted electro-oculographic and electroretinographic studies of six families with the autosomal recessively inherited Senior-Loken syndrome (juvenile familial nephronophthisis or medullary cystic disease in association with tapetoretinal degene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f5e05186efa5f0f5dd1af9a714644d
https://pubmed.ncbi.nlm.nih.gov/6837691
https://pubmed.ncbi.nlm.nih.gov/6837691
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 104(8)
To the Editor. —With great interest, we read the article of Kivlin et al 1 on a new syndrome, consisting of Peters' anomaly and short-limbed dwarfism. This prompted us to point to the publication in 1984 in which we described 11 patients with simil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2a2d18385f26d878f6d20c7dfda58b
https://pubmed.ncbi.nlm.nih.gov/3741236
https://pubmed.ncbi.nlm.nih.gov/3741236
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