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Acta ophthalmologica (Oxford, England), 2020-05, Vol.98 (3), p.286-295
2020
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Laryngoscope Investigative Otolaryngology, 2018-06, Vol.3 (3), p.214-217
2018
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Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
2024
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American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.862-876
- Menke, Leonie A.
- Gardeitchik, Thatjana
- Hammond, Peter
- Heimdal, Ketil R.
- Houge, Gunnar
- Hufnagel, Sophia B.
- Ji, Jianling
- Johansson, Stefan
- Kant, Sarina G.
- Kinning, Esther
- Leon, Eyby L.
- Newbury‐Ecob, Ruth
- Paolacci, Stefano
- Pfundt, Rolph
- Ragge, Nicola K.
- Rinne, Tuula
- Ruivenkamp, Claudia
- Saitta, Sulagna C.
- Sun, Yu
- Tartaglia, Marco
- Terhal, Paulien A.
- van Essen, Anthony J.
- Vigeland, Magnus D.
- Xiao, Bing
- Hennekam, Raoul C.
2018
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Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.377-377, Article 377
2023
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European journal of obstetrics & gynecology and reproductive biology, 2013-02, Vol.166 (2), p.117-123
2013
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Journal of medical genetics, 2018-01, Vol.55 (1), p.28
- Hamilton, Mark J
- Caswell, Richard C
- Canham, Natalie
- Cole, Trevor
- Firth, Helen V
- Foulds, Nicola
- Heimdal, Ketil
- Hobson, Emma
- Houge, Gunnar
- Joss, Shelagh
- Kumar, Dhavendra
- Lampe, Anne Katrin
- Maystadt, Isabelle
- McKay, Victoria
- Metcalfe, Kay
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Robert, Leema
- Rustad, Cecilie F
- Wakeling, Emma
- Wilkie, Andrew O M
- Study, The Deciphering Developmental Disorders
- Twigg, Stephen R F
- Suri, Mohnish
2018
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Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-427, Article 427
2021
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Urology (Ridgewood, N.J.), 2017-06, Vol.104, p.70-76
2017
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The Laryngoscope, 2020-05, Vol.130 (5), p.E284-E288
2020
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Bioscience reports, 2017-04, Vol.37 (2)
2017
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PloS one, 2015-07, Vol.10 (7), p.e0131637-e0131637
2015
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Cancers, 2021-04, Vol.13 (7), p.1652
2021
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The Lancet (British edition), 2000-12, Vol.356 (9245), p.1876-1881
2000
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JIMD reports, 2021-11, Vol.62 (1), p.56-69
2021
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American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1464-1475
2022
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National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences
2015
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Kidney international reports, 2017-05, Vol.2 (3), p.461-469
- Rowczenio, Dorota
- Stensland, Maria
- de Souza, Gustavo A
- Strøm, Erik H
- Gilbertson, Janet A
- Taylor, Graham
- Rendell, Nigel
- Minogue, Shane
- Efebera, Yvonne A
- Lachmann, Helen J
- Wechalekar, Ashutosh D
- Hawkins, Philip N
- Heimdal, Ketil R
- Selvig, Kristian
- Lægreid, Inger K
- Demoulin, Nathalie
- Aydin, Selda
- Gillmore, Julian D
- Wien, Tale N
2017
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PloS one, 2015-08, Vol.10 (8), p.e0136011-e0136011
2015
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Circulation. Cardiovascular genetics, 2013-06, Vol.6 (3), p.248
2013
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European journal of medical genetics, 2016-08, Vol.59 (8), p.367-372
2016
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Hereditary cancer in clinical practice, 2018-01, Vol.16 (1), p.3-3, Article 3
2018
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Cancer medicine (Malden, MA), 2015-07, Vol.4 (7), p.1069-1078
2015
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The Laryngoscope, 2018-10, Vol.128 (10), p.2237-2244
2018
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Annals of internal medicine, 2020-12, Vol.173 (12), p.989
- Faughnan, Marie E
- Mager, Johannes J
- Hetts, Steven W
- Palda, Valerie A
- Lang-Robertson, Kelly
- Buscarini, Elisabetta
- Deslandres, Erik
- Kasthuri, Raj S
- Lausman, Andrea
- Poetker, David
- Ratjen, Felix
- Chesnutt, Mark S
- Clancy, Marianne
- Whitehead, Kevin J
- Al-Samkari, Hanny
- Chakinala, Murali
- Conrad, Miles
- Cortes, Daniel
- Crocione, Claudia
- Darling, Jama
- de Gussem, Els
- Derksen, Carol
- Dupuis-Girod, Sophie
- Foy, Patrick
- Geisthoff, Urban
- Gossage, James R
- Hammill, Adrienne
- Heimdal, Ketil
- Henderson, Katharine
- Iyer, Vivek N
- Kjeldsen, Anette D
- Komiyama, Masaki
- Korenblatt, Kevin
- McDonald, Jamie
- McMahon, Jack
- McWilliams, Justin
- Meek, Mary E
- Mei-Zahav, Meir
- Olitsky, Scott
- Palmer, Sara
- Pantalone, Rose
- Piccirillo, Jay F
- Plahn, Beth
- Porteous, Mary E M
- Post, Marco C
- Radovanovic, Ivan
- Rochon, Paul J
- Rodriguez-Lopez, Josanna
- Sabba, Carlo
- Serra, Marcelo
- Shovlin, Claire
- Sprecher, Dennis
- White, Andrew J
- Winship, Ingrid
- Zarrabeitia, Roberto
2020
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