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Search Results for 'Cunha Etal'

Cunha Etal published presentations and documents on DocSlides.

JMedGeniet199431663666ReviewarticleThearylsulphataseAgeneandmolecul

JMedGeniet199431663666ReviewarticleThearylsulphataseAgeneandmolecul

  • blanko
  • 4 Slides

Barth,Fensom,HamsinASAactivitycausedbymutationsint...

betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe

betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe

  • holly
  • 10 Slides

Table1AnalyzedsiblingswithMLDSiblingpairsGenderMLD...

This document was downloaded for personal use only Unauthorized distr

This document was downloaded for personal use only Unauthorized distr

  • edolie
  • 12 Slides

This document was downloaded for personal use only...

CellMetabolismTheMIC1GDF15GFRALPathwayinEnergyHomeostasisImplicati

CellMetabolismTheMIC1GDF15GFRALPathwayinEnergyHomeostasisImplicati

  • eddey
  • 16 Slides

CellMetabolism,September4,20182018ElsevierInc. seq...

This document was downloaded for personal use only Unauthorized distr

This document was downloaded for personal use only Unauthorized distr

  • anya
  • 9 Slides

This document was downloaded for personal use only...

BRITISHMEDICALJOURNALLONDONSATURDAY18JUNE1977Pathogenesisofdiabeticmi

BRITISHMEDICALJOURNALLONDONSATURDAY18JUNE1977Pathogenesisofdiabeticmi

  • julia
  • 2 Slides

1556BRITISHMEDICALJOURNAL18JUNE1977damage.Inratsaf...

MicrocephalyGenesandRiskofLateonsetAlzheimerDiseaseDenizErtenLyonsM

MicrocephalyGenesandRiskofLateonsetAlzheimerDiseaseDenizErtenLyonsM

  • jones
  • 7 Slides

ReceivedforpublicationJune2,2010;acceptedDecember2...

This document was downloaded for personal use only Unauthorized distr

This document was downloaded for personal use only Unauthorized distr

  • gagnon
  • 4 Slides

This document was downloaded for personal use only...

Article published online 20211109

Article published online 20211109

  • helene
  • 9 Slides

approximately51millionbasepairs,withmorethan855ann...

OMIMgenesincludingHCCSgeneandispresentinapproximately18ofthecellsD

OMIMgenesincludingHCCSgeneandispresentinapproximately18ofthecellsD

  • catherine
  • 5 Slides

Fig.1Aninfantgirlwithleft-sidedanophthalmiaandskin...

REVIEWTOPICOFTHEWEEKAssessingMicrovascularDysfunctioninAnginaWithUnobs

REVIEWTOPICOFTHEWEEKAssessingMicrovascularDysfunctioninAnginaWithUnobs

  • anya
  • 9 Slides

Coronarymicrovasculardysfunctionisahighlyprevalent...

IntroductionWithinthefieldofOtolaryngologyHeadandNeckSurgeryseveralt

IntroductionWithinthefieldofOtolaryngologyHeadandNeckSurgeryseveralt

  • ruby
  • 7 Slides

(29.2%),andradialforearm(28.6%,Fig.3b).Inperform-i...

EndoscopicAnatomyandVentilationoftheEpitympanumDanieleMarchioniAless

EndoscopicAnatomyandVentilationoftheEpitympanumDanieleMarchioniAless

  • heavin
  • 14 Slides

Disclosures:Alloftheauthorshavereadandapprovedthem...

secondarycasesproducedbyasingleprimarycaseis

secondarycasesproducedbyasingleprimarycaseis

  • sophia
  • 9 Slides

estimatedatbelow1andthatMERSoutbreakshave beengrea...

ThechangingroleofindigenouslaymidwivesinGuatemalaNewframeworksforanal

ThechangingroleofindigenouslaymidwivesinGuatemalaNewframeworksforanal

  • desha
  • 7 Slides

ContentslistsavailableatSciVerseScienceDirectjourn...

ExpertOpinion

ExpertOpinion

  • bitsy
  • 8 Slides

MigraineWithPersistentVisualAura head_2103494..501...

Beingunderweightisawellknownfactorthatpredisposes

Beingunderweightisawellknownfactorthatpredisposes

  • molly
  • 2 Slides

patientstothedevelopmentofTB[2,3].However,TBmayals...

surgeryNopremedicationwasgivenEquipmentfordiffi

surgeryNopremedicationwasgivenEquipmentfordiffi

  • badra
  • 3 Slides

cultintubationwasprepared,andtwoanesthesiologists ...

CaseReportsVonWillebrandsDiseaseandSevereGastrointestinalBleedingRepo

CaseReportsVonWillebrandsDiseaseandSevereGastrointestinalBleedingRepo

  • elyana
  • 3 Slides

CASEREPORTSFigure1.-Thepedigreechartofa42-year-old...

MolecularCellTheMitochondrialBasisofAgingNuoSunRichardJYouleandTore

MolecularCellTheMitochondrialBasisofAgingNuoSunRichardJYouleandTore

  • finley
  • 13 Slides

MolecularCell,March3,20162016ElsevierInc. concorda...

ReviewMitochondrialDiseaseandAnesthesiaVincentCHsiehMD1ElliotJKran

ReviewMitochondrialDiseaseandAnesthesiaVincentCHsiehMD1ElliotJKran

  • joyce
  • 5 Slides

1DepartmentofAnesthesiologyandPerioperativeMedicin...

This document was downloaded for personal use only Unauthorized distr

This document was downloaded for personal use only Unauthorized distr

  • elena
  • 7 Slides

This document was downloaded for personal use only...

CellMetabolismModifyingtheMitochondrialGenomeAlexanderNPatanananTing

CellMetabolismModifyingtheMitochondrialGenomeAlexanderNPatanananTing

  • bella
  • 12 Slides

CellMetabolism,May10,20162016ElsevierInc. disorder...

MitochondrialEncephalomyopathyWithLacticAcidosisandStrokeLikeEpisodes

MitochondrialEncephalomyopathyWithLacticAcidosisandStrokeLikeEpisodes

  • fauna
  • 6 Slides

Mitochondrialencephalomyopathywithlacticacidosisan...

MotorneuronediseaseprogressandchallengesThanujaDharmadasaRobertDHend

MotorneuronediseaseprogressandchallengesThanujaDharmadasaRobertDHend

  • abigail
  • 6 Slides

Majorprogresshasbeenmadeoverthepastdecadeintheunde...

PalliativeCareinEndStageLiverDiseaseTimetoDoBetterChiaraMazzarelli

PalliativeCareinEndStageLiverDiseaseTimetoDoBetterChiaraMazzarelli

  • joanne
  • 8 Slides

Abbreviations:ACLF,acute-on-chronicliverfailure;CL...

InvivoimagingofthephotoreceptormosaicofarodmonochromatJosephCarrollSt

InvivoimagingofthephotoreceptormosaicofarodmonochromatJosephCarrollSt

  • luna
  • 5 Slides

VisionResearch48(2008)2564…2568 Contentslists...

289JMedGenet199229289290AnnotationConeandconeroddystrophiesThereti

289JMedGenet199229289290AnnotationConeandconeroddystrophiesThereti

  • wilson
  • 2 Slides

MooreSpecialisedelectrophysiological'6andpsy-choph...

PRECLINICALRESEARCHANewMonocyteChemotacticProtein1ChemokineCCMotifL

PRECLINICALRESEARCHANewMonocyteChemotacticProtein1ChemokineCCMotifL

  • megan
  • 11 Slides

Anonagonistmonocytechemotacticprotein-1(MCP-1/CCL2...

FibularPeronealNeuropathyElectrodiagnosticFeaturesandClinicalCorrela

FibularPeronealNeuropathyElectrodiagnosticFeaturesandClinicalCorrela

  • claire
  • 17 Slides

Disclosures:Norelevantdisclosures.DepartmentofPhys...

REVIEWOpenAccess

REVIEWOpenAccess

  • ceila
  • 12 Slides

systematrophy LudovicoCiolli 1,2 ,FlorianKrismer 2...

ORIGINALRESEARCHHEADNECKFlatPanelAngiographyintheCrossSectionalImagi

ORIGINALRESEARCHHEADNECKFlatPanelAngiographyintheCrossSectionalImagi

  • osullivan
  • 5 Slides

G.Conte, E.Scola, S.Calloni, R.Brambilla, M.Campol...

themostrestrictedphylogroupsconfinedtotheArabian

themostrestrictedphylogroupsconfinedtotheArabian

  • felicity
  • 9 Slides

Peninsula[3]andtheHimalayanregion[4],providing rob...

additionaltestsRsbDAFandFRsb4evaluatestheratioofextendedhaplotype

additionaltestsRsbDAFandFRsb4evaluatestheratioofextendedhaplotype

  • natalie
  • 13 Slides

Figure1.Distributionofpopulationsandsubspeciessamp...

Asequencebasedvariationmapof827millionSNPs

Asequencebasedvariationmapof827millionSNPs

  • freya
  • 6 Slides

LETTERS ininbredmousestrains KellyA.Frazer 1 ,Elea...

52ChroniHowardPanayiotopoul0sSpencerMultiplesclerosispresentingasla

52ChroniHowardPanayiotopoul0sSpencerMultiplesclerosispresentingasla

  • claire
  • 3 Slides

MSfollowingpoliomyelitis53...~~~~~~~~~...............

sequencingeventhoughthetestingisreadilyavaila

sequencingeventhoughthetestingisreadilyavaila

  • lucy
  • 10 Slides

ble. e48 Geneticdiagnosesarebeneficialtothepatient...

RESEARCHARTICLEMutationRelevanttoAutosomalRecessiveAdolescentOnsetDist

RESEARCHARTICLEMutationRelevanttoAutosomalRecessiveAdolescentOnsetDist

  • arya
  • 13 Slides

istalmyopathyisaclinicallyandgeneticallyhetero-gen...

ThemyotonicdystrophiesdiagnosisandmanagementChrisTurnerDavidHiltonJ

ThemyotonicdystrophiesdiagnosisandmanagementChrisTurnerDavidHiltonJ

  • daisy
  • 10 Slides

MYOTONICDYSTROPHYTYPE1 Prevalence Estimatesofthepr...

TheLimbGirdle

TheLimbGirdle

  • wang
  • 24 Slides

MuscularDystrophiesand theDystrophinopathies Stanl...

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