1.
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
by Molloy, Anne M
American journal of human genetics, 2016-05-05, Vol.98 (5), p.869-882
2.
A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13
by Seyda, Agnieszka
American journal of human genetics, 2001, Vol.68 (2), p.386-396
3.
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia
by Engbersen, A.M.T
American journal of human genetics, 1995, Vol.56 (1), p.142-150
4.
Hereditary tyrosinemia type I : strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis
by DEMERS, S. I
American journal of human genetics, 1994, Vol.55 (2), p.327-333
5.
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia
by LEDLEY, F. D
American journal of human genetics, 1990, Vol.46 (3), p.539-547
6.
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia : the contribution of mutations for classical phenylketonuria
by AVIGAD, S
American journal of human genetics, 1991, Vol.49 (2), p.393-399
7.
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
by Di Gregorio, Eleonora
American journal of human genetics, 2014-08-07, Vol.95 (2), p.209-217
8.
Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
by Peloso, Gina M
American journal of human genetics, 2014-02-06, Vol.94 (2), p.223-232
9.
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A ( RANK) Mutations
by Guerrini, Matteo M
American journal of human genetics, 2008, Vol.83 (1), p.64-76
10.
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
by Krawitz, Peter M
American journal of human genetics, 2013-04-04, Vol.92 (4), p.584-589
11.
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
by Bjursell, Magnus K
American journal of human genetics, 2011, Vol.89 (4), p.507-515
12.
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an...
by Pasutto, Francesca
American journal of human genetics, 2007, Vol.80 (3), p.550-560
13.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
by Park, Julien H
American journal of human genetics, 2015-12-03, Vol.97 (6), p.894-903
14.
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
by Talmud, Philippa J
American journal of human genetics, 2009-11-13, Vol.85 (5), p.628-642
15.
Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
by Mayr, Johannes A
American journal of human genetics, 2011-12-09, Vol.89 (6), p.792-797
16.
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
by Asselbergs, Folkert W
American journal of human genetics, 2012, Vol.91 (5), p.823-838
17.
Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations
by Tanaka, Toshiko
American journal of human genetics, 2009, Vol.84 (4), p.477-482
18.
Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency
by Chen, Karin
American journal of human genetics, 2013-11-07, Vol.93 (5), p.812-824
19.
Gain-of-Function Lipoprotein Lipase Variant rs13702 Modulates Lipid Traits through Disruption of a MicroRNA-410 Seed Site
by Richardson, Kris
American journal of human genetics, 2013-01-10, Vol.92 (1), p.5-14
20.
A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol
by Kotowski, Ingrid K
American journal of human genetics, 2006, Vol.78 (3), p.410-422
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