How malaria has affected the human genome and what human genetics can teach us about malariaGenome-wide insights into the patterns and determinants of fine-scale population structure in humansGenome-wide linkage and association analyses implicate FASN in predisposition to Uterine LeiomyomataWhole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessExome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth diseaseGJC2 missense mutations cause human lymphedemaMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleTranscription factor FIGLA is mutated in patients with premature ovarian failureMutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeA functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniationSequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationThe Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseMissense mutation in the alternative splice region of the PAX6 gene in eye anomaliesMutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.Mutation analysis of LMX1B gene in nail-patella syndrome patientsA loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunctionHuman molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type BCharacterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variationConnexin46 mutations in autosomal dominant congenital cataract.Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsSplicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesThe molecular basis of malonyl-CoA decarboxylase deficiency.Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneMutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domainLoss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.The use of racial, ethnic, and ancestral categories in human genetics researchA geographically explicit genetic model of worldwide human-settlement historyEvidence for variable selective pressures at MC1RThe distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data.Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.Coiled bodies and gems: Janus or gemini?Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderDenisova admixture and the first modern human dispersals into Southeast Asia and OceaniaCorrecting for purifying selection: an improved human mitochondrial molecular clockUnraveling autism
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P1433
description
Wissenschaftliche Fachzeitschrift
@de
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
scientific journal
@en
vědecký časopis
@cs
wetenschappelijk tijdschrift van Cell Press
@nl
науковий журнал
@uk
مجلة
@ar
वैज्ञानिक पत्रिका
@hi
name
American Journal of Human Genetics
@ast
American Journal of Human Genetics
@da
American Journal of Human Genetics
@de
American Journal of Human Genetics
@en
American Journal of Human Genetics
@es
American Journal of Human Genetics
@fi
American Journal of Human Genetics
@fo
American Journal of Human Genetics
@fr
American Journal of Human Genetics
@is
American Journal of Human Genetics
@it
type
label
American Journal of Human Genetics
@ast
American Journal of Human Genetics
@da
American Journal of Human Genetics
@de
American Journal of Human Genetics
@en
American Journal of Human Genetics
@es
American Journal of Human Genetics
@fi
American Journal of Human Genetics
@fo
American Journal of Human Genetics
@fr
American Journal of Human Genetics
@is
American Journal of Human Genetics
@it
altLabel
The American Journal of Human Genetics
@de
The American Journal of Human Genetics
@en
The American Journal of Human Genetics
@fr
The American Journal of Human Genetics
@nl
prefLabel
American Journal of Human Genetics
@ast
American Journal of Human Genetics
@da
American Journal of Human Genetics
@de
American Journal of Human Genetics
@en
American Journal of Human Genetics
@es
American Journal of Human Genetics
@fi
American Journal of Human Genetics
@fo
American Journal of Human Genetics
@fr
American Journal of Human Genetics
@is
American Journal of Human Genetics
@it
P31
P1042
P243
P3181
P4616
P1042
P1055
P1058
P1144
P1156
P1159
P1160
Am. J. Hum. Genet.