Upload
Featured Recent Articles Topics Login Upload

Search Results for 'Orphanet-Disease'

Orphanet-Disease published presentations and documents on DocSlides.

A merged disease ontology for
A merged disease ontology for
by DontBeASnitch
ClinGen. Chris Mungall. Nicole . Vasilevsky. Melis...
Procedural document
Procedural document
by molly
| Version 02 | March 2020 : Orphanet nomenclatu...
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...
Background
Background
by heavin
Duchennemusculardystrophy(DMD)anditsmilder form,Be...
Corneal disease treatment in pune | Dr. Sonalika’s Eye Clinic
Corneal disease treatment in pune | Dr. Sonalika’s Eye Clinic
by mackamble
Dr. Sonalika’s Eye Clinic provide the best Corne...
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 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...
Research Infrastructures
Research Infrastructures
by leah
to boost R&D . in the field of rare Diseases. ...
Case Discussion By: Dr
Case Discussion By: Dr
by elina
Batoul. . B. irjandi. Patients with MAS have a so...
Page 1 of 12(page number not for citation purposes)
Page 1 of 12(page number not for citation purposes)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...
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...
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 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...
RESEARCHOpenAccess
RESEARCHOpenAccess
by cappi
Bullouspemphigoidininfants:characteristics, diagno...
suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb
suggestedthattheactivationoftheAKTmTORpathwayandincreasedactivityofb
by evelyn
Fig.1ChestCTshowingmultiplethin-walledcystsinPatie...
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...
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...
Counting asbestos-related disease in the population: the role of hospital data, disease registries
Counting asbestos-related disease in the population: the role of hospital data, disease registries
by walter
Dr Matthew Soeberg, Epidemiologist, Asbestos Disea...
Wildlife Disease What is Wildlife Disease?
Wildlife Disease What is Wildlife Disease?
by daniella
Disease. is the change in the normal function of ...
Chapter 4: Cardiovascular Disease in Patients with Chronic Kidney Disease
Chapter 4: Cardiovascular Disease in Patients with Chronic Kidney Disease
by mia
2017 . Annual Data Report. Volume 1: Chronic Kidne...
MYOCARDIAL DISEASE Myocardial disease
MYOCARDIAL DISEASE Myocardial disease
by layla
, . is . a . disaese. of the myocardium that is n...
CONCEPT OF DISEASE CAUSATION AND MEASURES OF DISEASE FRQUENCY
CONCEPT OF DISEASE CAUSATION AND MEASURES OF DISEASE FRQUENCY
by callie
OLUWADARE, T. DEPARTMENTS OF COMMUNITY MEDICINE AN...
Lifestyle Disease’s Heart Disease Facts
Lifestyle Disease’s Heart Disease Facts
by osullivan
Leading cause of death in the United States for ad...
Sachs disease and what treatment is available TaySachs disease is a
Sachs disease and what treatment is available TaySachs disease is a
by davies
Genetics Home Reference: http://ghr.nlm.nih.gov/co...
Know the DifferenceCardiovascular Disease Heart Disease Coronary Hea
Know the DifferenceCardiovascular Disease Heart Disease Coronary Hea
by elena
Cardiovascular disease, heart disease, coronary he...
x0000x0000Equine Disease Communication Center Disease Factsheet
x0000x0000Equine Disease Communication Center Disease Factsheet
by bety
Disease Name: Eastern Equine Encephalitis, Easter...
Fifth Disease Frequently Asked QuesFifth disease is a mild rash illnes
Fifth Disease Frequently Asked QuesFifth disease is a mild rash illnes
by ida
How is fifth disease controlled? You can reduce yo...
Fabry Disease Chronic Kidney Disease
Fabry Disease Chronic Kidney Disease
by lucinda
IntroductionFabry disease (FD) arises from an X-li...
Chagas disease Pathology Chagas disease is a chronic infection in wh
Chagas disease Pathology Chagas disease is a chronic infection in wh
by madeline
: Chagas Disease Cycle (source: Centres of Disease...