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Browsing "Department of Paediatrics & Adolescent Medicine" by Author collins, f
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Showing results 1 to 2 of 2
Title
Author(s)
Issue Date
Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Journal:
Human Mutation
Prattichizzo, C
Macca, M
Novelli, V
Giorgio, G
Barra, A
Franco, B
Abdulla, F
Abramowicz, M
Amy, S
Schafer, I
Bankier, A
White, S
Barcina, MG
Bartoshesky, LE
Jenny, K
Beemer, FA
Benke, P
Betz, RC
Bianchini, G
Garavelli, L
Bigoni, S
Bird, L
Chibuk, J
MasserFrye, D
Brunetti, N
Scarcella, A
Brunner, HG
Burn, J
Carmi, R
Castellan, C
Castelluccio, P
Castle, B
Chiong, MA
Cutiongco, EM
Collins, F
Couchon, E
Curry, A
Pastore, M
Curry, C
Swenerton, A
Treisman, T
Dean, J
Devriendt, K
Matthijs, G
Dunlap, JW
Shashi, V
Elcioglu, N
Farndon, P
Ferrero, GB
Ferrier, R
Foulds, N
Friedman, JM
Gal, A
Orth, U
Gardner, M
Gerola, O
GillessenKaesbach, G
Giuliano, F
TurcCarel, C
Gödde, E
Graber, V
Graham, GE
Gurrieri, F
Harbour, L
Henderson, A
Jones, E
Heran, H
Homfray, T
Taylor, R
Iwarsson, E
Jensen, P
JezelaStanek, A
Joss, S
Taylor, G
Keeling, SL
Klatt, R
Teebi, A
KlehrMartinelli, M
Kotzot, D
Lees, M
Loughlin, S
Lhotta, K
Macdonald, F
Mari, F
Renieri, A
Marlin, S
Mcgaughran, J
Mckenzie, F
Mcleod, DR
Megarbane, A
Mota, CR
Mucke, J
Tzschach, A
Obersztyn, E
Okhowat, R
Shinzel, A
Pfau, R
Pober, B
Raymond, FL
Reich, E
Reimschisel, T
Robertson, J
Roggenbuck, J
Sabato, A
Sanchez Del Pozo, J
SchellApacik, C
Schwaab, E
Selicorni, A
Sell, S
Smithson, S
StrayPedersen, A
Tan, T
Thiese, H
Tol, J
Toprak, O
Trump, D
Whittaker, J
Williams, D
Zelante, L
Zoll, B
2008
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Journal:
Journal of Medical Genetics
Ravenscroft, G
Clayton, JS
Faiz, F
Sivadorai, P
Milnes, D
Cincotta, R
Moon, P
Kamien, B
Edwards, M
Delatycki, M
Lamont, PJ
Chan, SHS
Colley, A
Ma, A
Collins, F
Hennington, L
Zhao, T
McGillivray, G
Ghedia, S
Chao, K
O'Donnell-Luria, A
Laing, NG
Davis, MR
2021