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Journal of Medical Genetics
|
April 4, 2000
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
B H Eussen, G Bartalini, L Bakker, et al.
Orphanet Journal of Rare Diseases
|
April 6, 2013
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1997
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
W J Kleijer, J L Keulemans, M van der Kraan, et al.
Archives of Disease in Childhood
|
July 11, 1998
A prospective 10 year follow up study of patients with neurofibromatosis type 1
M H Cnossen, A de Goede-Bolder, K M van den Broek, et al.
European Journal of Human Genetics : EJHG
|
September 30, 2010
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
Ans M W van den Ouweland, Peter Elfferich, Bernard A Zonnenberg, et al.
The Journal of Biological Chemistry
|
August 9, 2002
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Han C Dan, Mei Sun, Lin Yang, et al.
The Journal of Biological Chemistry
|
November 9, 2016
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Han C Dan, Mei Sun, Lin Yang, et al.
American Journal of Human Genetics
|
October 27, 1997
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
B B de Vries, A M van den Ouweland, S Mohkamsing, et al.
European Journal of Pediatrics
|
April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
S Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics
|
May 1, 1996
Mental status of females with an FMR1 gene full mutation
B B de Vries, A M Wiegers, A P Smits, et al.
Page
of 20
Search research articles
Search
Showing results (151-160 of 194) with videos related to
Sort By:
Page
of 20
Journal of Medical Genetics
|
April 4, 2000
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
B H Eussen, G Bartalini, L Bakker, et al.
Orphanet Journal of Rare Diseases
|
April 6, 2013
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1997
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
W J Kleijer, J L Keulemans, M van der Kraan, et al.
Archives of Disease in Childhood
|
July 11, 1998
A prospective 10 year follow up study of patients with neurofibromatosis type 1
M H Cnossen, A de Goede-Bolder, K M van den Broek, et al.
European Journal of Human Genetics : EJHG
|
September 30, 2010
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
Ans M W van den Ouweland, Peter Elfferich, Bernard A Zonnenberg, et al.
The Journal of Biological Chemistry
|
August 9, 2002
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Han C Dan, Mei Sun, Lin Yang, et al.
The Journal of Biological Chemistry
|
November 9, 2016
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Han C Dan, Mei Sun, Lin Yang, et al.
American Journal of Human Genetics
|
October 27, 1997
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
B B de Vries, A M van den Ouweland, S Mohkamsing, et al.
European Journal of Pediatrics
|
April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
S Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics
|
May 1, 1996
Mental status of females with an FMR1 gene full mutation
B B de Vries, A M Wiegers, A P Smits, et al.
Page
of 20