Late diagnosis of primary hyperoxaluria type III
Richard, Emmanuel, Blouin, Jean-Marc, Harambat, Jérome, Llanas, Brigitte, Bouchet, Stéphane, Acquaviva, Cécile, de la Faille, Renaud
Published in Annals of clinical biochemistry (01.05.2017)
Published in Annals of clinical biochemistry (01.05.2017)
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Journal Article
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36
Radhakrishna, U, Blouin, J L, Solanki, J V, Dhoriani, G M, Antonarakis, S E
Published in American journal of medical genetics (11.12.1996)
Published in American journal of medical genetics (11.12.1996)
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Journal Article
Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease
de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Journal Article
Triple-X Syndrome in a Trisomic Down Syndrome Child: Both Aneuploidies Originated from the Mother
Sheth, H.J., Munoz, A., Sergi, C., Pani, J., Blouin, J.L., Sheth, J.J., Sheth, F.J.
Published in International journal of human genetics (01.03.2011)
Published in International journal of human genetics (01.03.2011)
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Journal Article
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
Rogan, P K, Close, P, Blouin, J L, Seip, J R, Gannutz, L, Ladda, R L, Antonarakis, S E
Published in American journal of medical genetics (06.11.1995)
Published in American journal of medical genetics (06.11.1995)
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Journal Article
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
Radhakrishna, U, Blouin, J L, Mehenni, H, Mehta, T Y, Sheth, F J, Sheth, J J, Solanki, J V, Antonarakis, S E
Published in American journal of medical genetics (11.07.1997)
Published in American journal of medical genetics (11.07.1997)
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Journal Article
Controlling reaching movements during self-motion: body-fixed versus Earth-fixed targets
Guillaud, Etienne, Simoneau, Martin, Gauthier, Gabriel, Blouin, Jean
Published in Motor control (01.10.2006)
Published in Motor control (01.10.2006)
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Functional anatomy of self-initiated vs externally triggered finger and foot synchronised movements: A PET study
Blouin, J.-S., Bard, C., Doyont, J., Paillard, J.
Published in NeuroImage (Orlando, Fla.) (01.06.2001)
Published in NeuroImage (Orlando, Fla.) (01.06.2001)
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Trends and determinants of antiresorptive drug use for osteoporosis among elderly women
Perreault, Sylvie, Dragomir, Alice, Desgagné, Alain, Blais, Lucie, Rossignol, Michel, Blouin, Julie, Moride, Yola, Ste-Marie, Louis-Georges, Fernandès, Julio Cesar
Published in Pharmacoepidemiology and drug safety (01.10.2005)
Published in Pharmacoepidemiology and drug safety (01.10.2005)
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