Systematic association mapping identifies NELL1 as a novel IBD disease geneA systematic approach to mapping recessive disease genes in individuals from outbred populationsThe genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in NematodaMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationMutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyMutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossMutation of POC1B in a severe syndromic retinal ciliopathyMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsA gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionLRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromePDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeLoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessPositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleThe nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.CEP152 is a genome maintenance protein disrupted in Seckel syndromeNexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathyFaulty initiation of proteoglycan synthesis causes cardiac and joint defectsLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyBiallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumG protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthMutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionMutations in PYCR1 cause cutis laxa with progeroid featuresDeletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsMutations in SPINT2 cause a syndromic form of congenital sodium diarrheaMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyRecessive mutations in DGKE cause atypical hemolytic-uremic syndromeNonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseMapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginReplication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer ConsortiumNonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyHypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancyA 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10
P50
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P50
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Duits biochemicus
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German biochemist and molecular biologist
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deutscher Biochemiker und Molekularbiologe
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tysk professor
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tysk professor
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name
Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nurnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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Peter Nürnberg
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P106
P214
P227
P1412
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Peter Nürnberg
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P2038
Peter_Nuernberg
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