Search research articles
Contact Us
Filters
Showing results (31-40 of 49) with videos related to
Page
of 5
Sort By:
Nature Genetics
|
September 1, 1997
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
G H Burch, Y Gong, W Liu, et al.
Journal of Child Neurology
|
March 1, 1995
D-2-hydroxyglutaric aciduria
W L Nyhan, G D Shelton, C Jakobs, et al.
American Journal of Human Genetics
|
August 1, 1989
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome
C J Curry, P O'Lague, J Tsai, et al.
American Journal of Medical Genetics
|
January 9, 2001
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child
C D DeLozier-Blanchet, E Roeder, R Denis-Arrue, et al.
American Journal of Medical Genetics
|
November 15, 1993
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome
C Cunniff, C J Curry, J C Carey, et al.
American Journal of Medical Genetics
|
April 15, 2000
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome
A E Lin, E V Semina, S Daack-Hirsch, et al.
American Journal of Medical Genetics
|
August 1, 1987
Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature
D R Witt, H E Hoyme, J Zonana, et al.
American Journal of Medical Genetics
|
January 1, 1987
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
C J Curry, J C Carey, J S Holland, et al.
The British Journal of Dermatology
|
March 23, 2010
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
M C Bolling, M J Veenstra, M F Jonkman, et al.
The New England Journal of Medicine
|
October 18, 1984
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome
C J Curry, R E Magenis, M Brown, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 49) with videos related to
Sort By:
Page
of 5
Nature Genetics
|
September 1, 1997
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
G H Burch, Y Gong, W Liu, et al.
Journal of Child Neurology
|
March 1, 1995
D-2-hydroxyglutaric aciduria
W L Nyhan, G D Shelton, C Jakobs, et al.
American Journal of Human Genetics
|
August 1, 1989
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome
C J Curry, P O'Lague, J Tsai, et al.
American Journal of Medical Genetics
|
January 9, 2001
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child
C D DeLozier-Blanchet, E Roeder, R Denis-Arrue, et al.
American Journal of Medical Genetics
|
November 15, 1993
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome
C Cunniff, C J Curry, J C Carey, et al.
American Journal of Medical Genetics
|
April 15, 2000
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome
A E Lin, E V Semina, S Daack-Hirsch, et al.
American Journal of Medical Genetics
|
August 1, 1987
Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature
D R Witt, H E Hoyme, J Zonana, et al.
American Journal of Medical Genetics
|
January 1, 1987
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
C J Curry, J C Carey, J S Holland, et al.
The British Journal of Dermatology
|
March 23, 2010
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
M C Bolling, M J Veenstra, M F Jonkman, et al.
The New England Journal of Medicine
|
October 18, 1984
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome
C J Curry, R E Magenis, M Brown, et al.
Page
of 5