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PubPharm (11)
1
Whole genome sequencing in clinical practice
in:
BMC Medical Genomics
| 2024
von
Frederik Otzen Bagger
|
Line Borgwardt
|
Andreas Sand Jespersen
| +4
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2
P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry
in:
Genetics in Medicine Open
| 2023
von
Nicole Muschol
|
Nathalie Guffon
|
Andrea Ballabeni
| +5
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3
O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry*
in:
Genetics in Medicine Open
| 2023
von
Nicole Muschol
|
Nathalie Guffon
|
Andrea Ballabeni
| +5
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4
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling
in:
Frontiers in Immunology
| 2022
von
Sara Bohnstedt Mørup
|
Lusine Nazaryan-Petersen
|
Migle Gabrielaite
| +12
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5
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
in:
Frontiers in Endocrinology
| 2021
von
Anna Reimer Hansen
|
Line Borgwardt
|
Åse Krogh Rasmussen
| +8
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6
Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
in:
Journal of Medical Case Reports
| 2021
von
Simone Diedrichsen Marstrand
|
Charlotte Landbo Tofteng
|
Anne Jarløv
| +2
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7
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
in:
Molecular Genetics and Metabolism Reports
| 2020
von
Dawn Phillips
|
Julia B. Hennermann
|
Anna Tylki-Szymanska
| +8
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8
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
in:
Frontiers in Immunology
| 2020
von
Camilla Heldbjerg Drabe
|
Rasmus L. Marvig
|
Line Borgwardt
| +6
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9
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
in:
Orphanet Journal of Rare Diseases
| 2020
von
Julia B. Hennermann
|
Nathalie Guffon
|
Federica Cattaneo
| +6
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10
Genotype–phenotype associations in PPGLs in 59 patients with variants in SDHX genes
in:
Endocrine Connections
| 2020
von
Ailsa Maria Main
|
Maria Rossing
|
Line Borgwardt
| +3
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1
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Diseases of the endocrine glands. Clinical endo...
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