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Clinical Genetics
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July 19, 2012
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection
Y Hilhorst-Hofstee, A J H A Scholte, M E B Rijlaarsdam, et al.
American Journal of Human Genetics
|
August 1, 1997
Spectrum of mutations in the Batten disease gene, CLN3
P B Munroe, H M Mitchison, A M O'Rawe, et al.
Genomics
|
February 12, 1998
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease
A Odermatt, P E Taschner, S W Scherer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2006
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
M J E Walenkamp, H J van der Kamp, A M Pereira, et al.
Nature Genetics
|
June 30, 2001
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
O T Njajou, N Vaessen, M Joosse, et al.
Nature Genetics
|
May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
E Rao, B Weiss, M Fukami, et al.
Prenatal Diagnosis
|
July 23, 1999
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
B B de Vries, W J Kleijer, J L Keulemans, et al.
Science (New York, N.Y.)
|
May 31, 1996
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
T Mochizuki, G Wu, T Hayashi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 9, 2001
New mutations in the neuronal ceroid lipofuscinosis genes
S E Mole, N A Zhong, A Sarpong, et al.
Human Mutation
|
January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
M H Cnossen, M N van der Est, M H Breuning, et al.
Page
of 17
Search research articles
Search
Showing results (131-140 of 163) with videos related to
Sort By:
Page
of 17
Clinical Genetics
|
July 19, 2012
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection
Y Hilhorst-Hofstee, A J H A Scholte, M E B Rijlaarsdam, et al.
American Journal of Human Genetics
|
August 1, 1997
Spectrum of mutations in the Batten disease gene, CLN3
P B Munroe, H M Mitchison, A M O'Rawe, et al.
Genomics
|
February 12, 1998
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease
A Odermatt, P E Taschner, S W Scherer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2006
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
M J E Walenkamp, H J van der Kamp, A M Pereira, et al.
Nature Genetics
|
June 30, 2001
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
O T Njajou, N Vaessen, M Joosse, et al.
Nature Genetics
|
May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
E Rao, B Weiss, M Fukami, et al.
Prenatal Diagnosis
|
July 23, 1999
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
B B de Vries, W J Kleijer, J L Keulemans, et al.
Science (New York, N.Y.)
|
May 31, 1996
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
T Mochizuki, G Wu, T Hayashi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 9, 2001
New mutations in the neuronal ceroid lipofuscinosis genes
S E Mole, N A Zhong, A Sarpong, et al.
Human Mutation
|
January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
M H Cnossen, M N van der Est, M H Breuning, et al.
Page
of 17