Hasil Pencarian - Pernille A Gregersen
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1
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders oleh Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
Diterbitkan 2020-06-01Dapatkan teks lengkap
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2
Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion oleh Saga Elise Eiset, Mikkel Funding, Hilary Racher, Steffen Heegaard, Brenda Gallie, Steen Fiil Urbak, Pernille A. Gregersen
Diterbitkan 2022-03-01Dapatkan teks lengkap
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3
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. oleh Anna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, Mana M Mehrjouy, Nanna Moeller Barnkob, Lisa L Hjalgrim, René Mathiasen, Charlotte K Lautrup, Pernille A Gregersen, Henrik Hasle, Peder S Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian O Laspiur, Maria Rossing, Rasmus L Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne-Marie Gerdes, Kjeld Schmiegelow, Karin Wadt
Diterbitkan 2020-12-01Dapatkan teks lengkap
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