نتائج البحث

Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study

• Authors : Kocher, Agnes; Simon, Michael; Dwyer, Andrew A ...

Subjects: 2716 Genetics (clinical); 10051 Rheumatology Clinic and Institute of Physical Medicine; 2736 Pharmacology (medical)

• Source: Kocher, Agnes; Simon, Michael; Dwyer, Andrew A; Blatter, Catherine; Bogdanovic, Jasmina; Künzler-Heule, Patrizia; Villiger, Peter M; Dan, Diana; Distler, Oliver; Walker, Ulrich A; Nicca, Dunja

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Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia

• Authors : Neda Saebnia; Reza Ebrahimzadeh-Vesal; Aliakbar Haddad-Mashhadrizeh ...

Subjects: Male; 2716 Genetics (clinical); 10039 Institute of Medical Genetics

• Source: J Assist Reprod Genet

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Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

• Authors : Bösch, Florin; Zeltner, Nina A; Baumgartner, Matthias R ...

Subjects: Parents; 2716 Genetics (clinical); Consensus

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

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The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

• Authors : Bassanese, Giulia; Wlodkowski, Tanja; Servais, Aude ...

Subjects: 2716 Genetics (clinical); 570 Life sciences; biology

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A systematic review of moral reasons on orphan drug reimbursement

• Authors : Johanna Eichinger; Matthias R. Baumgartner; Bettina M. Zimmermann ...

Subjects: Budgets; 2716 Genetics (clinical); medicine.medical_specialty

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-21 (2021)

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Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

• Authors : F Bösch; T Morrison; Andrew A. M. Morris ...

Subjects: Pediatrics; medicine.medical_specialty; 2716 Genetics (clinical)

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

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Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population

• Authors : Reka Maria Blazsik; Karol Tarcak; Holger Dressel ...

Subjects: Adult; Male; 0301 basic medicine

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)Orphanet Journal of Rare Diseases

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One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

• Authors : Ulrike Schara; Stephanie Demuth; Matthias Begemann ...

Subjects: 0301 basic medicine; 2716 Genetics (clinical); 10039 Institute of Medical Genetics

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x

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A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch model

• Authors : Anthony C. Redmond; Oliver Distler; Dunja Nicca ...

Subjects: 2716 Genetics (clinical); Psychometrics; Patient-centered care

• Source: Kocher, Agnes; Ndosi, Mwidimi; Denhaerynck, Kris; Simon, Michael; Dwyer, Andrew A; Distler, Oliver; Hoeper, Kirsten; Künzler-Heule, Patrizia; Redmond, Anthony C; Villiger, Peter M.; Walker, Ulrich A;

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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

• Authors : Opladen, Thomas; López-Laso, Eduardo; Cortès-Saladelafont, Elisenda ...

Subjects: 2716 Genetics (clinical); 10036 Medical Clinic; 2736 Pharmacology (medical)

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