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/vufind/Search/Results?lookfor=%22Demirdas%2C+Serwet%22&type=Person&sort=year
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PubPharm (48)
1
Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data
enthalten in:
bioRxiv.org
| 2024
von
Bongaerts, M.
|
Bonte, R.
|
Demirdas, S.
| +7
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2
Vascular Ehlers-Danlos Syndrome : A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
enthalten in:
Circulation. Genomic and precision medicine
| 2024
von
Demirdas, S.
|
van den Bersselaar, L.
|
Lechner, R.
| +23
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3
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa
enthalten in:
European journal of medical genetics
| 2024
von
Zervou, Z.
|
Plooij, R.
|
van Velsen, E.
| +3
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4
Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures
enthalten in:
JBMR plus
| 2023
von
van Velsen, E.
|
Demirdas, S.
|
Hanff, D.
| +1
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5
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients
enthalten in:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
| 2023
von
Zhou, W.
|
van Rooij, J.
|
van de Laarschot, D.
| +7
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6
Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation
enthalten in:
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
| 2023
von
Billar, R.
|
Heyman, S.
|
Kant, S.
| +4
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7
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
enthalten in:
American journal of human genetics
| 2023
von
Hiatt, S.
|
Trajkova, S.
|
Sebastiano, M.
| +81
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8
Commentary : The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients
enthalten in:
Frontiers in endocrinology
| 2023
von
van de Peppel, I.
|
Demirdas, S.
|
Özcan, B.
CommentOn: Front Endocrinol (Lausanne). 2021 Nov 25;12:728043. - PMID 34899594
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9
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Coenen-van der Spek, J.
|
Relator, R.
|
Kerkhof, J.
| +26
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10
Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures
enthalten in:
JBMR Plus
| 2023
von
Velsen, E.
|
Demirdas, S.
|
Hanff, D.
| +1
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collagen
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Ehlers-Danlos syndromes
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2010-2019
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