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Journal of Medical Genetics
|
September 13, 2005
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
T G W Letteboer, J J Mager, R J Snijder, et al.
American Journal of Medical Genetics
|
March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation
I E Knol, M G Ausems, D Lindhout, et al.
Nature Genetics
|
March 1, 1994
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
P Heutink, J Zguricas, L van Oosterhout, et al.
Epilepsia
|
August 1, 1997
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome
G M Terwindt, R A Ophoff, D Lindhout, et al.
The Journal of Biological Chemistry
|
August 2, 1996
An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin
L M Hart, D Lindhout, G C Van der Zon, et al.
American Journal of Human Genetics
|
April 1, 1993
Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds
P Devilee, R S Cornelis, A Bootsma, et al.
Human Genetics
|
November 1, 1995
Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura
A May, R A Ophoff, G M Terwindt, et al.
Prenatal Diagnosis
|
February 16, 2005
Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure
K ten Berg, A C C van Oppen, P G J Nikkels, et al.
Diabetologia
|
October 1, 1989
Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia
R H Lekanne Deprez, B J Potter van Loon, G C van der Zon, et al.
The New England Journal of Medicine
|
November 2, 1995
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
P J Bosma, J R Chowdhury, C Bakker, et al.
Page
of 13
Search research articles
Search
Showing results (81-90 of 123) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
September 13, 2005
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
T G W Letteboer, J J Mager, R J Snijder, et al.
American Journal of Medical Genetics
|
March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation
I E Knol, M G Ausems, D Lindhout, et al.
Nature Genetics
|
March 1, 1994
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
P Heutink, J Zguricas, L van Oosterhout, et al.
Epilepsia
|
August 1, 1997
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome
G M Terwindt, R A Ophoff, D Lindhout, et al.
The Journal of Biological Chemistry
|
August 2, 1996
An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin
L M Hart, D Lindhout, G C Van der Zon, et al.
American Journal of Human Genetics
|
April 1, 1993
Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds
P Devilee, R S Cornelis, A Bootsma, et al.
Human Genetics
|
November 1, 1995
Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura
A May, R A Ophoff, G M Terwindt, et al.
Prenatal Diagnosis
|
February 16, 2005
Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure
K ten Berg, A C C van Oppen, P G J Nikkels, et al.
Diabetologia
|
October 1, 1989
Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia
R H Lekanne Deprez, B J Potter van Loon, G C van der Zon, et al.
The New England Journal of Medicine
|
November 2, 1995
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
P J Bosma, J R Chowdhury, C Bakker, et al.
Page
of 13