Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
 
Zoeken naar met titel:
ABCDEFGHIJKLMNOPQRSTUVWXYZ

     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             35 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case report describing insights into the imaging of Apert syndrome Goyal, Diksha
2 C p.
 artikel
2 Addressing challenges in diagnosis and management of rare disease through interprofessional education Helderman, Ron
2 C p.
 artikel
3 An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder Shafiq, Tooba
2 C p.
 artikel
4 A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family Ibrahim, Rabab
2 C p.
 artikel
5 A rare responsibility; Straddling the roles of both the student and the sick Alani, Zainab Ahmed
2 C p.
 artikel
6 A unique collaborative model providing supportive and self-advocacy tools to the rare disease community Harris, Juliette M.
2 C p.
 artikel
7 Bone manifestations in Snyder‐Robinson syndrome Koerner, Teri L.
2 C p.
 artikel
8 Calciphylaxis in POEMS syndrome: Case report Novacic, Danica
2 C p.
 artikel
9 Congenital three-bone forearm – A rare disorder Terrence Jose Jerome, J.
2 C p.
 artikel
10 Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts Blue, Elizabeth E.
2 C p.
 artikel
11 Economics, externalities and rare disease Runge, Carlisle Ford
2 C p.
 artikel
12 Erdheim-Chester disease: Challenges in diagnosing and treating a rare multisystemic disease in Malaysia Lau, Qinglin
2 C p.
 artikel
13 Family and caregiver perspectives on gene therapy for Rett syndrome Ramsey, Keri
2 C p.
 artikel
14 FDA approves leniolisib (Joenja) as the first treatment for APDS: A breaththrough in the field of immunology Talha, Muhammad
2 C p.
 artikel
15 First year results and insights from the Mexican Rare Disease Patient Registry Calvo Aspiros, César E.
2 C p.
 artikel
16 GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update Claus, Laura R.
2 C p.
 artikel
17 Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome Werner-Lin, Allison
2 C p.
 artikel
18 Measuring health-related quality of life in solid rare cancer patients: A study protocol Padilla, Catarina S.
2 C p.
 artikel
19 Mitchell-Riley Syndrome: A rare genetic disorder, case report Sadhu, Shria
2 C p.
 artikel
20 Noma (Cancrum oris) in Africa: A newly added neglected tropical disease Adesola, Ridwan Olamilekan
2 C p.
 artikel
21 Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences Keeley, Jessica
2 C p.
 artikel
22 Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment Yadav, Mangal Chandra
2 C p.
 artikel
23 Rare disease care in Europe – Gaping unmet needs Pakter, Philippe
2 C p.
 artikel
24 Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad Hoppe, B.P.C.
2 C p.
 artikel
25 Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation Giacoma Pin, Michela
2 C p.
 artikel
26 Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report Heckel, Paige
2 C p.
 artikel
27 Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant Leung, Megumi
2 C p.
 artikel
28 The cross-sector model of care: A work design perspective Mertens, Annika
2 C p.
 artikel
29 The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations Pavisich, Kascia
2 C p.
 artikel
30 The power of diversity! Cederroth, Helene
2 C p.
 artikel
31 Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) Damy, Thibaud
2 C p.
 artikel
32 Undeleting the voice of people with 22q11 deletion syndrome: A scoping review Ayoub, Sophie
2 C p.
 artikel
33 Unfurling a case of encephalitis with Acanthamoeba after a near-drowning event Das, Debarup
2 C p.
 artikel
34 Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax Ikrou, H.
2 C p.
 artikel
35 What influences people’s decision to participate in clinical trials? A qualitative interview study with patients and parents of patients diagnosed with primary membranoproliferative glomerulonephritis (MPGN) Carver, Rebecca Bruu
2 C p.
 artikel
                             35 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland