Topic: Female
Journal: American Journal of Human Genetics
Documents
A list of abstracts that contain a topic of "Female" and a journal name of "American Journal of Human Genetics".
A Mutation in Para-hydroxybenzoate-polyprenyl Transferase (Coq2) Causes Primary Coenzyme Q10 Deficiency.
PMID: 16400613
Crisponi Syndrome is Caused by Mutations in the Crlf1 Gene and is Allelic to Cold-induced Sweating Syndrome Type 1.
PMID: 17436252
High Incidence of Later-onset Fabry Disease Revealed by Newborn Screening.
PMID: 16773563
Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine.
PMID: 16773568
Deciphering the Ancient and Complex Evolutionary History of Human Arylamine N-acetyltransferase Genes.
PMID: 16416399
New Complexities in the Genetics of Stuttering: Significant Sex-specific Linkage Signals.
PMID: 16532387
The Meckel-gruber Syndrome Gene, Mks3, is Mutated in Joubert Syndrome.
PMID: 17160906
Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association Between Endothelin-1 and High-density Lipoprotein Cholesterol.
PMID: 17357073
Disruption of Diacylglycerol Kinase Delta (Dgkd) Associated with Seizures in Humans and Mice.
PMID: 17357084
Cep290 Mutations Are Frequently Identified in the Oculo-renal Form of Joubert Syndrome-related Disorders.
PMID: 17564967
Hypomethylation of the H19 Gene Causes Not Only Silver-russell Syndrome (Srs) but Also Isolated Asymmetry or an Srs-like Phenotype.
PMID: 16532391
Nemaline Myopathy with Minicores Caused by Mutation of the Cfl2 Gene Encoding the Skeletal Muscle Actin-binding Protein, Cofilin-2.
PMID: 17160903
Functional Variants in the Promoter Region of Chitinase 3-like 1 (Chi3l1) and Susceptibility to Schizophrenia.
PMID: 17160890
Infantile Encephalopathy and Defective Mitochondrial Dna Translation in Patients with Mutations of Mitochondrial Elongation Factors Efg1 and Eftu.
PMID: 17160893
Characterization of Potocki-lupski Syndrome (Dup(17)(P11.2p11.2)) and Delineation of a Dosage-sensitive Critical Interval That Can Convey an Autism Phenotype.
PMID: 17357070
Inheritance of Mitochondrial Dna Recombinants in Double-heteroplasmic Families: Potential Implications for Phylogenetic Analysis.
PMID: 17236134