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Martine Le Merrer

Showing results (21-30 of 113) with videos related to

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Prenatal Diagnosis|May 23, 2006
Prenatal diagnostic indicators of paternal uniparental disomy 14Logos Curtis, Eric Antonelli, Yvan Vial, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Prenatal cortical hyperostosis with COL1A1 gene mutationAgnès Kamoun-Goldrat, Jelena Martinovic, Julien Saada, et al.
American Journal of Medical Genetics|February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndré Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Prenatal Diagnosis|September 12, 2002
Fetal fibrochondrogenesis at 26 weeks' gestationHanitra Randrianaivo, Georges Haddad, Horatiu Roman, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|December 8, 2010
Crouzon syndrome with acanthosis nigricans: a case-based updateFederico Di Rocco, Corinne Collet, Laurence Legeai-Mallet, et al.
European Journal of Human Genetics : EJHG|August 17, 2006
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaSolange Heuertz, Martine Le Merrer, Bernhard Zabel, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestationsLaurence Faivre, Valérie Cormier-Daire, Alison M Eliott, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing lossUwe Kornak, Francesco Brancati, Martine Le Merrer, et al.
Clinical Dysmorphology|June 15, 2004
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?Muriel Holder-Espinasse, Pierre Fayoux, Sandrine Morillon, et al.
European Journal of Human Genetics : EJHG|March 30, 2006
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndromeRichard Redon, Geneviève Baujat, Damien Sanlaville, et al.
Pageof 12

Showing results (21-30 of 113) with videos related to

Sort By:
Pageof 12
Prenatal Diagnosis|May 23, 2006
Prenatal diagnostic indicators of paternal uniparental disomy 14Logos Curtis, Eric Antonelli, Yvan Vial, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Prenatal cortical hyperostosis with COL1A1 gene mutationAgnès Kamoun-Goldrat, Jelena Martinovic, Julien Saada, et al.
American Journal of Medical Genetics|February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndré Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Prenatal Diagnosis|September 12, 2002
Fetal fibrochondrogenesis at 26 weeks' gestationHanitra Randrianaivo, Georges Haddad, Horatiu Roman, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|December 8, 2010
Crouzon syndrome with acanthosis nigricans: a case-based updateFederico Di Rocco, Corinne Collet, Laurence Legeai-Mallet, et al.
European Journal of Human Genetics : EJHG|August 17, 2006
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaSolange Heuertz, Martine Le Merrer, Bernhard Zabel, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestationsLaurence Faivre, Valérie Cormier-Daire, Alison M Eliott, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing lossUwe Kornak, Francesco Brancati, Martine Le Merrer, et al.
Clinical Dysmorphology|June 15, 2004
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?Muriel Holder-Espinasse, Pierre Fayoux, Sandrine Morillon, et al.
European Journal of Human Genetics : EJHG|March 30, 2006
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndromeRichard Redon, Geneviève Baujat, Damien Sanlaville, et al.
Pageof 12