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1 . Academic Journal
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design
저자
by
Akkaya, Federica
;
Babka, Christine
;
Bannert, Lisa
;
Bärsch-Michelmann, Anja
;
Böhm, Leonie
, et al.
소스
In
eClinicalMedicine
November 2023 65
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
저자
by
Boer, Elke de
;
Cohen, Enzo
;
Cuesta, Isabel
;
Danis, Daniel
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Management of rare movement diseases in different world regions
저자
by
Painous, Celia
;
Martí, Maria J.
;
Graessner, Holm
;
Camargo, Andrea Paola
;
El-Jaafary, Shaimaa Ibrahim
, et al.
소스
In
Parkinsonism and Related Disorders
March 2023 108
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7 . Academic Journal
Continuous leg dyskinesia assessment in Parkinson's disease –clinical validity and ecological effect
저자
by
Ramsperger, Robert
;
Meckler, Stefan
;
Heger, Tanja
;
van Uem, Janet
;
Hucker, Svenja
, et al.
소스
In
Parkinsonism and Related Disorders
May 2016 26:41-46
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7 . Academic Journal
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
저자
by
Schoenmakers, Daphne H.
;
Mochel, Fanny
;
Adang, Laura A.
;
Boelens, Jaap-Jan
;
Calbi, Valeria
, et al.
소스
Orphanet Journal of Rare Diseases
. 2/7/2024, Vol. 19, p1-9. 9p.
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7 . Academic Journal
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
저자
by
Mancuso, Michelangelo
;
Lopriore, Piervito
;
Lamperti, Costanza
;
Klopstock, Thomas
;
Rahman, Shamima
, et al.
소스
Journal of Neurology
. Feb2024, Vol. 271 Issue 2, p835-840. 6p.
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7 . Academic Journal
Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial.
저자
by
Poli, Sven
;
Mbroh, Joshua
;
Baron, Jean-Claude
;
Singhal, Aneesh B
;
Strbian, Daniel
, et al.
소스
International Journal of Stroke
. Jan2024, Vol. 19 Issue 1, p120-126. 7p.
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7 . Academic Journal
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey.
저자
by
Morris, Stephen
;
Vallortigara, Julie
;
Greenfield, Julie
;
Hunt, Barry
;
Hoffman, Deborah
, et al.
소스
Orphanet Journal of Rare Diseases
. 12/7/2023, Vol. 18 Issue 1, p1-8. 8p.
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7 . Academic Journal
EAN guidance for developing and reporting clinical practice guidelines on rare neurological diseases
저자
by
Aleksovska, Katina
;
Kobulashvili, Teia
;
Costa, Joao
;
Zimmermann, Georg
;
Ritchie, Karen
, et al.
소스
In
Journal of the Neurological Sciences
October 2021 429 Supplement
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