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Author/Creator Encha-Razavi, F

1. Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. Issue 11 (November 1997)

Authors:
Benzacken, B; Siffroi, J P; Le Bourhis, C; Krabchi, K; Joyé, N; Maschino, F; Viguié, F; Soulié, J; Gonzales, M; Migné, G; Bucourt, M; Encha-Razavi, F; Carbillon, L; Taillemite, J L
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 11(1997)
Page Start:
899
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. Issue 1 (5th January 2005)

Authors:
Pasquier, L; Dubourg, C; Gonzales, M; Lazaro, L; David, V; Odent, S; Encha-Razavi, F
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 1(2005)
Page Start:
e4
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Issue 3 (16th September 2005)

Authors:
Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
211
Record Type:
Journal Article
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4. Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome. Issue 10 (1st June 2007)

Authors:
Steffann, J; Gigarel, N; Corcos, J; Bonnière, M; Encha-Razavi, F; Sinico, M; Prevot, S; Dumez, Y; Yamgnane, A; Frydman, R; Munnich, A; Bonnefont, J P
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 10(2007)
Page Start:
664
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗