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Search Results for 'Orphanetjournalofrarediseases Goltzsyndrome'

Orphanetjournalofrarediseases Goltzsyndrome published presentations and documents on DocSlides.

Background

Background

  • heavin
  • 10 Slides

Duchennemusculardystrophy(DMD)anditsmilder form,Be...

suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb

suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb

  • evelyn
  • 8 Slides

Fig.1ChestCTshowingmultiplethin-walledcystsinPatie...

RESEARCHOpenAccess

RESEARCHOpenAccess

  • cappi
  • 12 Slides

Bullouspemphigoidininfants:characteristics, diagno...

betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe

betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe

  • holly
  • 10 Slides

Table1AnalyzedsiblingswithMLDSiblingpairsGenderMLD...

othergroupshavealsofound

othergroupshavealsofound

  • wilson
  • 6 Slides

SMARCA4 mutationsinthis neoplasm[13-15]andallthese...

RESEARCHOpenAccess

RESEARCHOpenAccess

  • faith
  • 8 Slides

EncephalopathyinchildrenwithDravet syndromeisnotap...

38BecauseFMFisthemostcommonautoinflammatorydiseasecolchicineresist

38BecauseFMFisthemostcommonautoinflammatorydiseasecolchicineresist

  • audrey
  • 12 Slides

localizedandbecomesgeneralizedtoresolvein12to48h.P...

substantiallyaffecttheirgeneralhealthSincefewstudieshavebeenconducted

substantiallyaffecttheirgeneralhealthSincefewstudieshavebeenconducted

  • julia
  • 14 Slides

metabolismseeninGDthatleadstoasignificantdecreasei...

secretedHedgehogligandwhichbindsandinhibitsPatchedthussettinginmotio

secretedHedgehogligandwhichbindsandinhibitsPatchedthussettinginmotio

  • phoebe
  • 7 Slides

photoreceptorinnersegment/outersegment(IS/OS)junct...

6AlJassimAHSwiftACPersistentnasalcrustingduetohypohidroticectoderm

6AlJassimAHSwiftACPersistentnasalcrustingduetohypohidroticectoderm

  • martin
  • 11 Slides

Wohlfartetal.OrphanetJournalofRareDiseases ...

areresponsiblefor32ofARCIandare

areresponsiblefor32ofARCIandare

  • riley
  • 12 Slides

in TGM1 stronglyassociatedwithcollodionbaby[2].Int...

experienceoftheauthorsMostofthepublishedstudies

experienceoftheauthorsMostofthepublishedstudies

  • claire
  • 15 Slides

beingretrospective,areobservationalstudieswithoutc...

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