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American Journal of Human Genetics
|
October 1, 1996
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
L A Pérez Jurado, R Peoples, P Kaplan, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1995
Zimmermann-Laband syndrome in a patient with severe mental retardation
G J Van Buggenhout, H G Brunner, J C Trommelen, et al.
American Journal of Medical Genetics
|
May 15, 1994
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)
L O Langer, R J Gorlin, D Donnai, et al.
European Journal of Human Genetics : EJHG
|
July 6, 2000
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
L Tranebjaerg, B C Hamel, F J Gabreels, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
March 1, 1990
Prenatal follow-up of hypophosphatasia by ultrasound: case report
P W van Dongen, B C Hamel, J G Nijhuis, et al.
Journal of Medical Genetics
|
November 1, 1992
Intestinal pseudo-obstruction in myotonic dystrophy
H G Brunner, B C Hamel, P Rieu, et al.
Journal of Medical Genetics
|
October 1, 1994
Down-Turner syndrome: case report and review
G J Van Buggenhout, B C Hamel, J C Trommelen, et al.
Human Mutation
|
February 6, 1998
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
F A Hol, M P Geurds, C W Cremers, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 21, 1987
[Prune-belly syndrome: experiences with 9 patients]
J Smeitink, B C Hamel, R van Empelen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
June 27, 1992
[Cardiovascular abnormalities in Marfan syndrome]
J H Fast, G H Boers, S Meijers-Jacobs, et al.
Page
of 13
Search research articles
Search
Showing results (31-40 of 129) with videos related to
Sort By:
Page
of 13
American Journal of Human Genetics
|
October 1, 1996
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
L A Pérez Jurado, R Peoples, P Kaplan, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1995
Zimmermann-Laband syndrome in a patient with severe mental retardation
G J Van Buggenhout, H G Brunner, J C Trommelen, et al.
American Journal of Medical Genetics
|
May 15, 1994
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)
L O Langer, R J Gorlin, D Donnai, et al.
European Journal of Human Genetics : EJHG
|
July 6, 2000
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
L Tranebjaerg, B C Hamel, F J Gabreels, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
March 1, 1990
Prenatal follow-up of hypophosphatasia by ultrasound: case report
P W van Dongen, B C Hamel, J G Nijhuis, et al.
Journal of Medical Genetics
|
November 1, 1992
Intestinal pseudo-obstruction in myotonic dystrophy
H G Brunner, B C Hamel, P Rieu, et al.
Journal of Medical Genetics
|
October 1, 1994
Down-Turner syndrome: case report and review
G J Van Buggenhout, B C Hamel, J C Trommelen, et al.
Human Mutation
|
February 6, 1998
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
F A Hol, M P Geurds, C W Cremers, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
March 21, 1987
[Prune-belly syndrome: experiences with 9 patients]
J Smeitink, B C Hamel, R van Empelen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
June 27, 1992
[Cardiovascular abnormalities in Marfan syndrome]
J H Fast, G H Boers, S Meijers-Jacobs, et al.
Page
of 13