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Search Results for 'Orphanet'
Orphanet published presentations and documents on DocSlides.
secretedHedgehogligandwhichbindsandinhibitsPatchedthussettinginmotio
by phoebe
photoreceptorinnersegment/outersegment(IS/OS)junct...
Procedural document
by molly
| Version 02 | March 2020 : Orphanet nomenclatu...
Background
by heavin
Duchennemusculardystrophy(DMD)anditsmilder form,Be...
A merged disease ontology for
by DontBeASnitch
ClinGen. Chris Mungall. Nicole . Vasilevsky. Melis...
Rare is not rare’
by breezeibm
1 / 3 ‘ New scientific paper confi rms 300 m il...
experienceoftheauthorsMostofthepublishedstudies
by claire
beingretrospective,areobservationalstudieswithoutc...
areresponsiblefor32ofARCIandare
by riley
in TGM1 stronglyassociatedwithcollodionbaby[2].Int...
6AlJassimAHSwiftACPersistentnasalcrustingduetohypohidroticectoderm
by martin
Wohlfartetal.OrphanetJournalofRareDiseases ...
Page 2 of 8etal Orphanet J Rare Dis 2021 16182
by danya
to dilated arterioles []. HHT is associated with t...
substantiallyaffecttheirgeneralhealthSincefewstudieshavebeenconducted
by julia
metabolismseeninGDthatleadstoasignificantdecreasei...
38BecauseFMFisthemostcommonautoinflammatorydiseasecolchicineresist
by audrey
localizedandbecomesgeneralizedtoresolvein12to48h.P...
Page 2 of 13Gharesouranetal Orphanet J Rare Dis 2021 16
by joanne
the inherited forms of the disease have an inciden...
RESEARCHOpenAccess
by faith
EncephalopathyinchildrenwithDravet syndromeisnotap...
othergroupshavealsofound
by wilson
SMARCA4 mutationsinthis neoplasm[13-15]andallthese...
betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe
by holly
Table1AnalyzedsiblingswithMLDSiblingpairsGenderMLD...
Page 2 of 6etal Orphanet Journal of Rare Diseases 2022 17
by walsh
begs the question: how long will it take other cou...
Page 2 of 12Fattizzoetal Orphanet J Rare Dis 2021 16415
by caroline
1, 2]. Table shows the genetic basis of most comm...
Page 2 of 9etal Orphanet J Rare Dis 2021 16227
by beatrice
While CD is presently incurable, experimental ther...
RESEARCHOpenAccess
by cappi
Bullouspemphigoidininfants:characteristics, diagno...
suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb
by evelyn
Fig.1ChestCTshowingmultiplethin-walledcystsinPatie...
Case Discussion By: Dr
by elina
Batoul. . B. irjandi. Patients with MAS have a so...
Research Infrastructures
by leah
to boost R&D . in the field of rare Diseases. ...
Jacquemard F Ultrasonographic signs of congenital toxoplasmosis Arch P
by vivian
Jones J Lopez A Wilson M Congenital toxoplasmosis ...
A guide to the recognition and referral of Niemann-Pick typ
by conchita-marotz
A guide to the recognition and referral of Nieman...
Page 1 of 12(page number not for citation purposes)
by luanne-stotts
BioMed Orphanet Journal of Rare Diseases Christian...
A guide to the recognition and referral of Niemann-Pick typ
by kittie-lecroy
A guide to the recognition and referral of Nieman...
Lists of medicinal products for rare diseases in Europe*
by ellena-manuel
www.orpha.net www.orphadata.orgApril 2016 *Europ...
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