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Author/Creator Whiteford, Margo

1. Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. (21st May 2015)

Authors:
Syx, Delfien; Guillemyn, Brecht; Symoens, Sofie; Sousa, Ana Berta; Medeira, Ana; Whiteford, Margo; Hermanns‐Lê, Trinh; Coucke, Paul J; De Paepe, Anne; Malfait, Fransiska
Journal:
Journal of bone and mineral research
Issue:
Volume 30:Number 8(2015:Aug.)
Page Start:
1445
Record Type:
Journal Article
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2. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Issue 9 (4th July 2018)

Authors:
Meester, Josephina A.N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert‐Dussardier, Brigitte; Holder‐Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nel...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1246
Record Type:
Journal Article
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3. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017)

Authors:
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
830
Record Type:
Journal Article
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4. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Issue 2 (2nd November 2017)

Authors:
Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Enge...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 2(2018)
Page Start:
104
Record Type:
Journal Article
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