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Orphanet-People published presentations and documents on DocSlides.

Rare is not rare’
Rare is not rare’
by breezeibm
1 / 3 ‘ New scientific paper confi rms 300 m il...
secretedHedgehogligandwhichbindsandinhibitsPatchedthussettinginmotio
secretedHedgehogligandwhichbindsandinhibitsPatchedthussettinginmotio
by phoebe
photoreceptorinnersegment/outersegment(IS/OS)junct...
Procedural document
Procedural document
by molly
| Version 02 | March 2020 : Orphanet nomenclatu...
Background
Background
by heavin
Duchennemusculardystrophy(DMD)anditsmilder form,Be...
A merged disease ontology for
A merged disease ontology for
by DontBeASnitch
ClinGen. Chris Mungall. Nicole . Vasilevsky. Melis...
experienceoftheauthorsMostofthepublishedstudies
experienceoftheauthorsMostofthepublishedstudies
by claire
beingretrospective,areobservationalstudieswithoutc...
areresponsiblefor32ofARCIandare
areresponsiblefor32ofARCIandare
by riley
in TGM1 stronglyassociatedwithcollodionbaby[2].Int...
6AlJassimAHSwiftACPersistentnasalcrustingduetohypohidroticectoderm
6AlJassimAHSwiftACPersistentnasalcrustingduetohypohidroticectoderm
by martin
Wohlfartetal.OrphanetJournalofRareDiseases ...
Page 2 of 8etal Orphanet J Rare Dis 2021 16182
Page 2 of 8etal Orphanet J Rare Dis 2021 16182
by danya
to dilated arterioles []. HHT is associated with t...
substantiallyaffecttheirgeneralhealthSincefewstudieshavebeenconducted
substantiallyaffecttheirgeneralhealthSincefewstudieshavebeenconducted
by julia
metabolismseeninGDthatleadstoasignificantdecreasei...
38BecauseFMFisthemostcommonautoinflammatorydiseasecolchicineresist
38BecauseFMFisthemostcommonautoinflammatorydiseasecolchicineresist
by audrey
localizedandbecomesgeneralizedtoresolvein12to48h.P...
Page 2 of 13Gharesouranetal Orphanet J Rare Dis 2021 16
Page 2 of 13Gharesouranetal Orphanet J Rare Dis 2021 16
by joanne
the inherited forms of the disease have an inciden...
RESEARCHOpenAccess
RESEARCHOpenAccess
by faith
EncephalopathyinchildrenwithDravet syndromeisnotap...
othergroupshavealsofound
othergroupshavealsofound
by wilson
SMARCA4 mutationsinthis neoplasm[13-15]andallthese...
betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe
betweengenotyperesidualenzymeactivityandclinicalphenotyperemainstobe
by holly
Table1AnalyzedsiblingswithMLDSiblingpairsGenderMLD...
Page 2 of 6etal Orphanet Journal of Rare Diseases 2022 17
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
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
Page 2 of 9etal Orphanet J Rare Dis 2021 16227
by beatrice
While CD is presently incurable, experimental ther...
RESEARCHOpenAccess
RESEARCHOpenAccess
by cappi
Bullouspemphigoidininfants:characteristics, diagno...
suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb
suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb
by evelyn
Fig.1ChestCTshowingmultiplethin-walledcystsinPatie...
Case Discussion By: Dr
Case Discussion By: Dr
by elina
Batoul. . B. irjandi. Patients with MAS have a so...
Research Infrastructures
Research Infrastructures
by leah
to boost R&D . in the field of rare Diseases. ...
Jacquemard F Ultrasonographic signs of congenital toxoplasmosis Arch P
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
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)
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
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*
Lists of medicinal products for rare diseases in Europe*
by ellena-manuel
www.orpha.net www.orphadata.orgApril 2016 *Europ...
Unit U2.11 Why do some people believe in God and some people not?
Unit U2.11 Why do some people believe in God and some people not?
by reese
What do you know already?. What do you already kno...
IRELAND – PEOPLE WHO ARE THESE PEOPLE?
IRELAND – PEOPLE WHO ARE THESE PEOPLE?
by ava
WHO ARE THESE PEOPLE?. WHO ARE THESE PEOPLE?. WHO ...
By the People , with the people:
By the People , with the people:
by missroach
User-centered assessment for user-centered . crowd...
& Our Young People Temptation Equally Impacts All People
& Our Young People Temptation Equally Impacts All People
by partysilly
But . each person . is. . tempted. when he is lu...
People Importance of People
People Importance of People
by relievinglexus
Most important factor in the quality of software i...
People Importance of People
People Importance of People
by tatiana-dople
Most important factor in the quality of software...
Peoples´ Struggles and Human Rights against Land and Natural
Peoples´ Struggles and Human Rights against Land and Natural
by phoebe-click
Resource Grabbing. . in: „The Right to Land a...
For All People
For All People
by tatyana-admore
1 Timothy 2:1-7. Paul . urged Timothy to confront...
THE SAMI PEOPLE
THE SAMI PEOPLE
by stefany-barnette
AND. . REINDEER . …. BY: . RANEEM ALDUGHYAM . ...
Getting People To Engage with Bowls:
Getting People To Engage with Bowls:
by aaron
Capitalising on Modern Technology. Tom Hamilton: ...
Young People’s Survey Results 2016
Young People’s Survey Results 2016
by myesha-ticknor
Guernsey young people’s survey 2016:. The Conte...
People are people
People are people
by karlyn-bohler
People are people. People are people. People are ...
Increasing people’s
Increasing people’s
by tawny-fly
Well-Being. Mariano Rojas. FCCT. The. . Experien...