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Variable skeletal p...
Variable skeletal phenotypes associated with biallelic variants in PRKG2
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- Pagnamenta, Alistair T. (author)
- NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK
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- Diaz-Gonzalez, Francisca (author)
- NGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain
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- Banos-Pinero, Benito (author)
- Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Ferla, Matteo P. (author)
- NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK
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- Toosi, Mehran B. (author)
- Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Iran
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- Calder, Alistair D. (author)
- Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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- Karimiani, Ehsan G. (author)
- Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George’s, University of London, UK ; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran
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- Doosti, Mohammad (author)
- Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran
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- Wainwright, Andrew (author)
- Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Wordsworth, Paul (author)
- NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK ; Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Bailey, Kathryn (author)
- Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Ejeskär, Katarina, 1969- (author)
- Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin (TRIM), Translational Medicine
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- Lester, Tracy (author)
- Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Maroofian, Reza (author)
- Department of Neuromuscular Disorders, Queen Square Institute of Neurology, UCL, London, UK
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- Heath, Karen E. (author)
- INGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain ; CIBERER, ISCIII, Madrid, Spain
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- Tajsharghi, Homa (author)
- Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin (TRIM), Translational Medicine
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- Shears, Deborah (author)
- Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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- Taylor, Jenny C. (author)
- NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK
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(creator_code:org_t)
- 2021-11-15
- 2022
- English.
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In: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 59:10, s. 947-950
- Related links:
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https://doi.org/10.1...
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https://his.diva-por... (primary) (Raw object)
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Subject headings
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Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Genetics (clinical)
- Genetics
- Translationell medicin TRIM
- Translational Medicine TRIM
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Pagnamenta, Alis ...
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Diaz-Gonzalez, F ...
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Banos-Pinero, Be ...
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Ferla, Matteo P.
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Toosi, Mehran B.
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Calder, Alistair ...
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Karimiani, Ehsan ...
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Doosti, Mohammad
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Wainwright, Andr ...
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Wordsworth, Paul
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Bailey, Kathryn
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Ejeskär, Katarin ...
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Lester, Tracy
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Maroofian, Reza
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Heath, Karen E.
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Tajsharghi, Homa
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Shears, Deborah
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Taylor, Jenny C.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Medic ...
- By the university
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University of Skövde