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Center for Medical Molecular Biology
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top-articles
Center for Medical Molecular Biology
30
(top 2%)
papers
967
(top 2%)
citations
15
(top 2%)
h
-index
29
(top 2%)
g
-index
30
all documents
985
doc citations
274
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
One short well conserved region ofAlu-sequences is involved in human gene rearrangements and has homology with prokaryoticchi
Nucleic Acids Research
1995
213
2
The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
Human Molecular Genetics
1997
119
3
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]
Human Molecular Genetics
1996
106
4
Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme
Journal of Biological Chemistry
1995
79
5
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
Clinical Chemistry
1996
67
6
Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene
FEBS Letters
1995
47
7
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
Journal of Inherited Metabolic Disease
1996
40
8
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein
Atherosclerosis
1997
29
9
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia
Human Mutation
1998
29
10
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
Clinical Chemistry
1996
27
11
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
Human Mutation
1994
25
12
The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II
Human Mutation
1998
25
13
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood
Prenatal Diagnosis
1995
24
14
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells
Human Mutation
1995
21
15
Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase
Journal of Inherited Metabolic Disease
1995
20
16
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia
1996
14
17
Characterization of Wild-Type Human Medium-Chain Acyl-CoA Dehydrogenase (MCAD) and Mutant Enzymes Present in MCAD-Deficient Patients by Two-Dimensional Gel Electrophoresis: Evidence for Posttranslational Modification of the Enzyme
Biochemical Medicine and Metabolic Biology
1994
12
18
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
Human Mutation
1996
12
19
Impaired Folding and Subunit Assembly as Disease Mechanism: The Example of Medium-Chain acyl-CoA Dehydrogenase Deficiency
Progress in Molecular Biology and Translational Science
1997
12
20
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
Journal of Inherited Metabolic Disease
1994
11
21
Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population
Clinical Genetics
1996
11
22
Allele-specific measurement of low-density lipoprotein receptor transcript levels
Human Mutation
1996
10
23
A G
‐1
‐to‐A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia
Clinical Genetics
1996
9
24
An alanine
29
‐serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia
Clinical Genetics
1994
7
25
An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia
Clinical Genetics
1996
6
26
Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease
Clinical Genetics
1995
4
27
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA
Journal of Inherited Metabolic Disease
1994
2
28
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia
Human Mutation
1996
2
29
Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation
Clinical Genetics
1996
1
30
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia
Human Mutation
1998
1
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