Ancient DNA provides new insights into the history of south Siberian Kurgan peopleCharacterization of the human synaptogyrin gene familyIn silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion moleculesIdentification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequenceChromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchangerComplete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genesGenomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type AA testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and YIdentification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular proteinA novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3Genetics of psychosis; insights from views across the genomeMolecular genetic analysis of Down syndromeCandidate gene studies of ADHD: a meta-analytic reviewCharacterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patientsThe mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody diseaseGenome-wide association study of glioma and meta-analysisSystematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitusGenetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findingsFrom single biobanks to international networks: developing e-governanceHuman variant glucose-6-phosphate transporter is active in microsomal transportThe human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesiaThe genes for the human VPS10 domain-containing receptors are large and contain many small exonsDisruptions of the novel KIAA1202 gene are associated with X-linked mental retardationGenetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibilityCIA30 complex I assembly factor: a candidate for human complex I deficiency?The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphateDifferent chromosomal localization of two adenylyl cyclase genes expressed in human brainMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismHuman esterase D gene: complete cDNA sequence, genomic structure, and application in the genetic diagnosis of human retinoblastomaTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaHyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotesGene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependenceModerate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathyCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeThe Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE proteinA WAGR region gene between PAX-6 and FSHB expressed in fetal brainLocalization of the human HF.10 finger gene on a chromosome region (3p21-22) frequently deleted in human cancersIdentification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)Preparation of a rat brain histidine decarboxylase (HDC) cDNA probe by PCR and assignment of the human HDC gene to chromosome 15Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
P1433
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P1433
description
journal
@en
revista científica
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revue scientifique
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rivista scientifica
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videnskabeligt tidsskrift
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vědecký časopis
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wetenschappelijk tijdschrift van Springer Science+Business Media
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wissenschaftliche Fachzeitschrift
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مجلة
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वैज्ञानिक पत्रिका
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name
Human Genetics
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Human Genetics
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Human Genetics
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Human Genetics
@en
Human Genetics
@es
Human Genetics
@fi
Human Genetics
@fo
Human Genetics
@fr
Human Genetics
@is
Human Genetics
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type
label
Human Genetics
@ast
Human Genetics
@da
Human Genetics
@de
Human Genetics
@en
Human Genetics
@es
Human Genetics
@fi
Human Genetics
@fo
Human Genetics
@fr
Human Genetics
@is
Human Genetics
@it
prefLabel
Human Genetics
@ast
Human Genetics
@da
Human Genetics
@de
Human Genetics
@en
Human Genetics
@es
Human Genetics
@fi
Human Genetics
@fo
Human Genetics
@fr
Human Genetics
@is
Human Genetics
@it
P243
P3181
P4616
P1055
P1058
P1156
P1160
Hum. Genet.
P1277
P1476
Human Genetics
@en
P236
P243
P3181
P571
1964-01-01T00:00:00Z