Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Greta Beighton"'
Autor:
Bagley D, Peter Beighton, Daly Mj, Greta Beighton, P. Ianakiev, Michael W. Kilpatrick, Zolindaki A, Petros Tsipouras
Publikováno v:
Clinical Genetics. 57:278-283
The acromesomelic dysplasias (AMDs) are a group of genetic disorders that primarily affect the middle and distal segments of the extremities. A form of AMD is present on the isolated island of St Helena in the South Atlantic, which has a population o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db0035d156191b885e9bb07c5a4dc50
https://doi.org/10.1034/j.1399-0004.2000.570406.x
https://doi.org/10.1034/j.1399-0004.2000.570406.x
Autor:
Greta Beighton
A decade after the publication of The Man Behind the Syndrome, which was warmly received, particularly by medical geneticists, syndromologists and those doctors from many different dis ciplines with an interest in medical history, Peter and Greta B
Autor:
Peter Beighton, Greta Beighton
The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of m
Autor:
Greta Beighton, Peter Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
Schwartz-Jampel-Aberfeld syndrome comprises myotonia, blepharophimosis, stunted stature and joint contractures. Inheritance is autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60c78958ba85bf81ea032b0750bca3ff
https://doi.org/10.1007/978-1-4471-0925-9_102
https://doi.org/10.1007/978-1-4471-0925-9_102
Autor:
Greta Beighton, Peter Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
STARGARDT disease, or familial juvenile macular degeneration, is a heterogeneous disorder which presents in mid-childhood and slowly progresses to total blindness.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b14f03fdda37c435eba666c759c075c4
https://doi.org/10.1007/978-1-4471-0925-9_78
https://doi.org/10.1007/978-1-4471-0925-9_78
Autor:
Peter Beighton, Greta Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddbbb9d71d8d75ccf69ef98ce18c0e16
https://doi.org/10.1007/978-1-4471-0925-9_72
https://doi.org/10.1007/978-1-4471-0925-9_72
Autor:
Peter Beighton, Greta Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
Marshall-Smith syndrome comprises motor and mental retardation, accelerated skeletal maturation and an unusual facies. The mode of inheritance is uncertain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdd638bf6f4b8b7e6b14a7e6f62c8568
https://doi.org/10.1007/978-1-4471-0925-9_145
https://doi.org/10.1007/978-1-4471-0925-9_145
Autor:
Greta Beighton, Peter Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
Weaver syndrome comprises overgrowth, advanced skeletal maturation and an unusual facies. Inheritance is probably autosomal recessive.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe0f9b3fcc0e6161a8727ac88d2400f2
https://doi.org/10.1007/978-1-4471-0925-9_170
https://doi.org/10.1007/978-1-4471-0925-9_170
Autor:
Greta Beighton, Peter Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
KALLMANN syndrome is a genetically heterogeneous disorder in which hypogonadism and anosmia are the major manifestations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::674cb553c83fee0b29fd0c0b4109542d
https://doi.org/10.1007/978-1-4471-0925-9_50
https://doi.org/10.1007/978-1-4471-0925-9_50
Autor:
Peter Beighton, Greta Beighton
Publikováno v:
The Person Behind the Syndrome ISBN: 9781447112365
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c269f2216c8c950dac6b1b2baabb01cd
https://doi.org/10.1007/978-1-4471-0925-9_7
https://doi.org/10.1007/978-1-4471-0925-9_7