Zobrazeno 1 - 10
of 11
pro vyhledávání: '"J W, Oorthuys"'
Publikováno v:
Clinical Genetics. 25:470-472
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3498a15729102ad3c354dbfe89fcc6b1
https://doi.org/10.1111/j.1399-0004.1984.tb02019.x
https://doi.org/10.1111/j.1399-0004.1984.tb02019.x
Publikováno v:
Genetic counseling (Geneva, Switzerland). 7(1)
The Schinzel-Giedion syndrome is an infrequently described malformation syndrome, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, urogenital abnormalities, and minor radiographic features. Death pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5e18f34687f332bfe515beb55fd13bd
https://pubmed.ncbi.nlm.nih.gov/8652084
https://pubmed.ncbi.nlm.nih.gov/8652084
Publikováno v:
Tijdschrift voor kindergeneeskunde. 59(3)
Infants and children with achondroplasia are at increased risk of sudden death because of apneic attacks caused by compression of the medulla oblongata or spinal cord by a constricted foramen magnum or narrow upper cervical spinal canal. This history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::914d677813651b127013a894d49daf8e
https://pubmed.ncbi.nlm.nih.gov/1862512
https://pubmed.ncbi.nlm.nih.gov/1862512
Autor:
J de Groote, N C Nevin, J W Oorthuys, F M Pope, A. De Paepe, P A Farndon, Anne H. Child, M V Kilpatrick
Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b54fcc0fca18d5ee3ba2e94fea9132
https://europepmc.org/articles/PMC1016925/
https://europepmc.org/articles/PMC1016925/
Publikováno v:
Archives of Disease in Childhood. 63:1016-1025
Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of type III collagen genes. It presents in infancy and childhood in several ways, and the symptoms and signs include low birth weight, prematurity, congenital dislo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc1a4ff81f150143ed6c5dbe443c2793
https://doi.org/10.1136/adc.63.9.1016
https://doi.org/10.1136/adc.63.9.1016
Autor:
J W, Oorthuys
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 131(23)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::98a3def14c8f092994b9ad6bdd8f3111
https://pubmed.ncbi.nlm.nih.gov/3600836
https://pubmed.ncbi.nlm.nih.gov/3600836
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 129(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e84df8d0d0dfbd1f5a1e4fca3ea388d
https://pubmed.ncbi.nlm.nih.gov/3969173
https://pubmed.ncbi.nlm.nih.gov/3969173
Autor:
P, Fleury, K, Dingemans, W P, de Groot, A P, Oranje, P A, Voûte, M J, Woerdeman, J W, Delleman, J W, Oorthuys, A J, Verboom
Publikováno v:
Clinical neurology and neurosurgery. 88(1)
In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c97093cfd6574e9e8f8ea925b8f0b88a
https://pubmed.ncbi.nlm.nih.gov/3709001
https://pubmed.ncbi.nlm.nih.gov/3709001
Publikováno v:
Tijdschrift voor kindergeneeskunde. 52(6)
Congenital muscular dystrophy is a relatively unknown primary myopathy with autosomal recessive inheritance. The literature on this entity is discussed and augmented with the authors' own experience. The prevalence of cerebral abnormalities in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd8903436d7b90ea755989c294f48e42
https://pubmed.ncbi.nlm.nih.gov/6528316
https://pubmed.ncbi.nlm.nih.gov/6528316