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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”
by
Costantini, Alice
,
Valta, Helena
,
Baratang, Nissan Vida
,
Yap, Patrick
,
Bertola, Débora R.
,
Yamamoto, Guilherme L.
,
Kim, Chong A.
,
Chen, Jiani
,
Wierenga, Klaas J.
,
Fanning, Elizabeth A.
,
Escobar, Luis
,
McWalter, Kirsty
,
McLaughlin, Heather
,
Willaert, Rebecca
,
Begtrup, Amber
,
Alm, Jessica J.
,
Reinhardt, Dieter P.
,
Mäkitie, Outi
,
Campeau, Philippe M.
Published in
Bone (New York, N.Y.)
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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
by
Patel, R.M.
,
Nagamani, S.C.S.
,
Cuthbertson, D.
,
Campeau, P.M.
,
Krischer, J.P.
,
Shapiro, J.R.
,
Steiner, R.D.
,
Smith, P.A.
,
Bober, M.B.
,
Byers, P.H.
,
Pepin, M.
,
Durigova, M.
,
Glorieux, F.H.
,
Rauch, F.
,
Lee, B.H.
,
Hart, T.
,
Sutton, V.R.
Published in
Clinical genetics
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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
by
Verberne, Eline A.
,
van der Laan, Liselot
,
Haghshenas, Sadegheh
,
Rooney, Kathleen
,
Levy, Michael A.
,
Alders, Mariëlle
,
Maas, Saskia M.
,
Jansen, Sandra
,
Lieden, Agne
,
Anderlid, Britt-Marie
,
Rafael-Croes, Louise
,
Campeau, Philippe M.
,
Chaudhry, Ayeshah
,
Koolen, David A.
,
Pfundt, Rolph
,
Hurst, Anna C. E.
,
Tran-Mau-Them, Frederic
,
Bruel, Ange-Line
,
Lambert, Laetitia
,
Isidor, Bertrand
,
Mannens, Marcel M. A. M.
,
Sadikovic, Bekim
,
Henneman, Peter
,
van Haelst, Mieke M.
Published in
International journal of molecular sciences
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
by
Kasher, Paul R.
,
Schertz, Katherine E.
,
Thomas, Megan
,
Jackson, Adam
,
Annunziata, Silvia
,
Ballesta-Martinez, María J.
,
Campeau, Philippe M.
,
Clayton, Peter E.
,
Eaton, Jennifer L.
,
Granata, Tiziana
,
Guillén-Navarro, Encarna
,
Hernando, Cristina
,
Laverriere, Caroline E.
,
Liedén, Agne
,
Villa-Marcos, Olaya
,
McEntagart, Meriel
,
Nordgren, Ann
,
Pantaleoni, Chiara
,
Pebrel-Richard, Céline
,
Sarret, Catherine
,
Sciacca, Francesca L.
,
Wright, Ronnie
,
Kerr, Bronwyn
,
Glasgow, Eric
,
Banka, Siddharth
Published in
American journal of human genetics
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ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy
by
Mattison, KA
,
Tossing, G
,
Mulroe, F
,
Simmons, C
,
Butler, KM
,
Schreiber, A
,
Alsadah, A
,
Neilson, DE
,
Naess, K
,
Wedell, A
,
Wredenberg, A
,
Sorlin, A
,
McCann, E
,
Burghel, GJ
,
Menendez, B
,
Hoganson, GE
,
Botto, LD
,
Filloux, FM
,
Aledo-Serrano, Á
,
Gil-Nagel, A
,
Tatton-Brown, K
,
Verbeek, NE
,
van Hirtum-Das, M
,
Breckpot, J
,
Hammer, TB
,
Møller, RS
,
Whitney, A
,
Douglas, AGL
,
Kharbanda, M
,
Brunetti-Pierri, N
,
Morleo, M
,
Nigro, V
,
May, HJ
,
Tao, JX
,
Argili, E
,
Sherr, EH
,
Dobyns, WB
,
Consortium, GER
,
Baines, RA
,
Warwicker, J
,
Parker, JA
,
Banka, S
,
Campeau, PM
,
Escayg, A
Published in
Brain (London, England : 1878)
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Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
by
Basalom, Shuaa
,
Fiscaletti, Mélissa
,
Miranda, Valancy
,
Huber, Céline
,
Couture, Guillaume
,
Drouin, Régen
,
Monceau, Élise
,
Wavrant, Sandrine
,
Dubé, Johanne
,
Mäkitie, Outi
,
Cormier-Daire, Valérie
,
Campeau, Philippe M.
Published in
Bone Reports
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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures"
by
Alm, JJ
,
Costantini, A
,
Valta, H
,
Baratang, NV
,
Yap, P
,
Bertola, D
,
Yamamoto, G
,
Kim, CA
,
Chen, JN
,
Wierenga, KJ
,
Fanning, EA
,
Escobar, L
,
Mcwalter, K
,
Mclaughlin, H
,
Willaert, R
,
Begtrup, A
,
Reinhardt, DP
,
Makitie, O
,
Campeau, PM
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Conference Proceeding
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