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Raymonde Bouvier

Showing results (51-60 of 66) with videos related to

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Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
American Journal of Medical Genetics. Part A|August 12, 2014
Fetal phenotype associated with the 22q11 deletionAnne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, et al.
Molecular Genetics and Metabolism|March 17, 2009
Chylomicron retention disease: a long term study of two cohortsNoel Peretti, Claude C Roy, Agnès Sassolas, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 30, 2013
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genesLeire Madariaga, Vincent Morinière, Cécile Jeanpierre, et al.
Nature Genetics|August 24, 2005
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisOlivier Gribouval, Marie Gonzales, Thomas Neuhaus, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
Human Molecular Genetics|September 16, 2004
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesMartin Zenker, Thomas Aigner, Olaf Wendler, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 1, 2014
Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosisJulien Baruteau, Sophie Heissat, Pierre Broué, et al.
The American Journal of Surgical Pathology|March 18, 2008
Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literaturePhilippe Camparo, Viorel Vasiliu, Vincent Molinie, et al.
Journal of Medical Genetics|April 14, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesJoyce El Hokayem, Céline Huber, Adeline Couvé, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
American Journal of Medical Genetics. Part A|August 12, 2014
Fetal phenotype associated with the 22q11 deletionAnne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, et al.
Molecular Genetics and Metabolism|March 17, 2009
Chylomicron retention disease: a long term study of two cohortsNoel Peretti, Claude C Roy, Agnès Sassolas, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 30, 2013
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genesLeire Madariaga, Vincent Morinière, Cécile Jeanpierre, et al.
Nature Genetics|August 24, 2005
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisOlivier Gribouval, Marie Gonzales, Thomas Neuhaus, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
Human Molecular Genetics|September 16, 2004
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesMartin Zenker, Thomas Aigner, Olaf Wendler, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 1, 2014
Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosisJulien Baruteau, Sophie Heissat, Pierre Broué, et al.
The American Journal of Surgical Pathology|March 18, 2008
Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literaturePhilippe Camparo, Viorel Vasiliu, Vincent Molinie, et al.
Journal of Medical Genetics|April 14, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesJoyce El Hokayem, Céline Huber, Adeline Couvé, et al.
Pageof 7