VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q92617644 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241121000228.0
008 241121nneanz||abbn n and d
035 ‎‡a (WKP)Q92617644‏
024 ‎‡a 0000-0002-7854-4396‏ ‎‡2 orcid‏
035 ‎‡a (OCoLC)Q92617644‏
100 0 ‎‡a অ্যান্ড্রু এ মরিস‏ ‎‡9 bn‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Andrew A Morris‏ ‎‡c researcher (ORCID 0000-0002-7854-4396)‏ ‎‡9 en‏
400 0 ‎‡a Andrew A Morris‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
670 ‎‡a Author's A novel point mutation in the mitochondrial tRNA‏
670 ‎‡a Author's A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome‏
670 ‎‡a Author's A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype‏
670 ‎‡a Author's A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency‏
670 ‎‡a Author's Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder‏
670 ‎‡a Author's Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene‏
670 ‎‡a Author's Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy‏
670 ‎‡a Author's Leigh syndrome caused by mutations in is associated with a better prognosis‏
670 ‎‡a Author's LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.‏
670 ‎‡a Author's Maternally inherited mitochondrial DNA disease in consanguineous families‏
670 ‎‡a Author's MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.‏
670 ‎‡a Author's Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation‏
670 ‎‡a Author's Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits‏
670 ‎‡a Author's Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies‏
670 ‎‡a Author's SURF1 deficiency: a multi-centre natural history study.‏
670 ‎‡a Author's The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.‏
670 ‎‡a Author's The genotypic and phenotypic spectrum of MTO1 deficiency.‏
670 ‎‡a Author's Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.‏
909 ‎‡a (orcid) 0000000278544396‏ ‎‡9 1‏
919 ‎‡a novelpointmutationinthemitochondrialtrnatrpgeneproducesaneurogastrointestinalsyndrome‏ ‎‡A A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome‏ ‎‡9 1‏
919 ‎‡a useofwholeexomesequencingtodeterminethegeneticbasisofmultiplemitochondrialrespiratorychaincomplexdeficiencies‏ ‎‡A Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.‏ ‎‡9 1‏
919 ‎‡a novelpointmutationinthemitochondrialtrna‏ ‎‡A A novel point mutation in the mitochondrial tRNA‏ ‎‡9 1‏
919 ‎‡a recurrentmitochondrialptrp22argndufb3variantcausesadistinctivefacialappearanceshortstatureandamildbiochemicalandclinicalphenotype‏ ‎‡A A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype‏ ‎‡9 1‏
919 ‎‡a genotypicandphenotypicspectrumofmto1deficiency‏ ‎‡A The genotypic and phenotypic spectrum of MTO1 deficiency.‏ ‎‡9 1‏
919 ‎‡a clinicalbiochemicalandgeneticfeaturesassociatedwithrmnd1relatedmitochondrialdisease‏ ‎‡A The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.‏ ‎‡9 1‏
919 ‎‡a truncatingpet100variantcausingfatalinfantilelacticacidosisandisolatedcytochrome100oxidasedeficiency‏ ‎‡A A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency‏ ‎‡9 1‏
919 ‎‡a biallelicmutationsinatp5f1dwhichencodesasubunitofatpsynthasecauseametabolicdisorder‏ ‎‡A Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder‏ ‎‡9 1‏
919 ‎‡a clinicalbiochemicalcellularandmolecularcharacterizationofmitochondrialdnadepletionsyndromeduetonovelmutationsinthempv17gene‏ ‎‡A Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene‏ ‎‡9 1‏
919 ‎‡a surf1deficiencyamulticentrenaturalhistorystudy‏ ‎‡A SURF1 deficiency: a multi-centre natural history study.‏ ‎‡9 1‏
919 ‎‡a recessivemutationsintrmt10ccausedefectsinmitochondrialrnaprocessingandmultiplerespiratorychaindeficiencies‏ ‎‡A Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies‏ ‎‡9 1‏
919 ‎‡a instabilityofthemitochondrialalanyltrnasynthetaseunderliesfatalinfantileonsetcardiomyopathy‏ ‎‡A Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy‏ ‎‡9 1‏
919 ‎‡a leighsyndromecausedbymutationsinisassociatedwithabetterprognosis‏ ‎‡A Leigh syndrome caused by mutations in is associated with a better prognosis‏ ‎‡9 1‏
919 ‎‡a novelgfm2variantsassociatedwithearlyonsetneurologicalpresentationsofmitochondrialdiseaseandimpairedexpressionofoxphossubunits‏ ‎‡A Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits‏ ‎‡9 1‏
919 ‎‡a multipleneonataldeathsduetoahomoplasmicmitochondrialdnamutation‏ ‎‡A Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation‏ ‎‡9 1‏
919 ‎‡a lrpprcmutationscauseearlyonsetmultisystemmitochondrialdiseaseoutsideofthefrenchcanadianpopulation‏ ‎‡A LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.‏ ‎‡9 1‏
919 ‎‡a mtnd5mutationexhibitshighlyvariableneurologicalmanifestationsatlowmutantload‏ ‎‡A MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.‏ ‎‡9 1‏
919 ‎‡a maternallyinheritedmitochondrialdnadiseaseinconsanguineousfamilies‏ ‎‡A Maternally inherited mitochondrial DNA disease in consanguineous families‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
996 ‎‡2 J9U|987007354718405171‏
996 ‎‡2 LC|n 2014071539‏
996 ‎‡2 SUDOC|224211692‏
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996 ‎‡2 CAOONL|ncf10195385‏
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996 ‎‡2 PLWABN|9810673005605606‏
996 ‎‡2 SUDOC|192895540‏
996 ‎‡2 CAOONL|ncf11404061‏
996 ‎‡2 LC|no2008049315‏
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996 ‎‡2 SUDOC|157819132‏
996 ‎‡2 CAOONL|ncf10531698‏
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996 ‎‡2 ISNI|0000000108281781‏
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996 ‎‡2 DBC|87097991622238‏
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996 ‎‡2 LC|n 50006156‏
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996 ‎‡2 B2Q|0001359020‏
996 ‎‡2 LC|n 2008039694‏
996 ‎‡2 CAOONL|ncf11890147‏
996 ‎‡2 LC|n 77014511‏
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996 ‎‡2 PLWABN|9810700649705606‏
996 ‎‡2 RERO|A014258356‏
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996 ‎‡2 BNCHL|10000000000000000164485‏
996 ‎‡2 CAOONL|ncf11271265‏
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996 ‎‡2 NDL|033076358‏
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996 ‎‡2 LC|no2020041251‏
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996 ‎‡2 CAOONL|ncf10898800‏
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996 ‎‡2 LC|n 92044819‏
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996 ‎‡2 B2Q|0000841751‏
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996 ‎‡2 J9U|987012329989505171‏
996 ‎‡2 BIBSYS|90169794‏
996 ‎‡2 NYNYRILM|336484‏
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996 ‎‡2 J9U|987007340363805171‏
996 ‎‡2 LC|no2021144262‏
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996 ‎‡2 LC|no2019174014‏
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996 ‎‡2 N6I|vtls000045712‏
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996 ‎‡2 CAOONL|ncf10210115‏
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996 ‎‡2 RERO|A006282043‏
996 ‎‡2 PLWABN|9810571331905606‏
996 ‎‡2 SUDOC|028566335‏
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996 ‎‡2 SUDOC|076163458‏
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996 ‎‡2 BNF|12037642‏
996 ‎‡2 LC|no 99053193‏
996 ‎‡2 DNB|1147093105‏
996 ‎‡2 DNB|1030483345‏
996 ‎‡2 LC|n 78089249‏
996 ‎‡2 BIBSYS|7021527‏
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996 ‎‡2 ISNI|0000000070957554‏
996 ‎‡2 NII|DA16438259‏
996 ‎‡2 SUDOC|198313276‏
996 ‎‡2 SZ|1147093105‏
996 ‎‡2 NYNYRILM|346809‏
996 ‎‡2 CAOONL|ncf11212151‏
996 ‎‡2 JPG|500025853‏
996 ‎‡2 LC|no 92031573‏
996 ‎‡2 LC|n 82206068‏
996 ‎‡2 NTA|069625697‏
996 ‎‡2 NKC|xx0084777‏
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996 ‎‡2 LC|n 2016063256‏
996 ‎‡2 LC|nb2013007003‏
996 ‎‡2 W2Z|12010283‏
996 ‎‡2 CAOONL|ncf11630068‏
996 ‎‡2 ISNI|0000000116418880‏
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996 ‎‡2 ISNI|0000000124103299‏
996 ‎‡2 NUKAT|n 2012253433‏
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996 ‎‡2 J9U|987007283326705171‏
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996 ‎‡2 DNB|1310621659‏
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996 ‎‡2 NUKAT|nx2023260870‏
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996 ‎‡2 LC|n 97870069‏
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996 ‎‡2 LC|n 2003107505‏
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996 ‎‡2 ISNI|0000000026414608‏
996 ‎‡2 LC|n 2003127816‏
996 ‎‡2 NKC|jx20071023017‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏