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S Lyonnet

Showing results (171-180 of 223) with videos related to

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American Journal of Medical Genetics|June 27, 2000
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndromeA L Tellier, J Amiel, A L Delezoide, et al.
American Journal of Medical Genetics|March 10, 2001
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndromeJ Amiel, T Attieé-Bitach, R Marianowski, et al.
Journal of Medical Genetics|March 4, 2005
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung diseaseA Pelet, L de Pontual, M Clément-Ziza, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1991
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel dataD De Craemer, M J Zweens, S Lyonnet, et al.
Journal of Medical Genetics|March 11, 2000
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)M Bahuau, I Laurendeau, A Pelet, et al.
American Journal of Medical Genetics|November 7, 1998
Ebstein anomaly associated with rearrangements of chromosomal region 11qP de Lonlay-Debeney, M C de Blois, D Bonnet, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC Bidaud, R Salomon, G Van Camp, et al.
American Journal of Human Genetics|December 1, 1996
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 geneJ A Terrett, R Newbury-Ecob, N M Smith, et al.
Neuropediatrics|March 17, 2006
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic studyS Romano, N Boddaert, I Desguerre, et al.
Pageof 23

Showing results (171-180 of 223) with videos related to

Sort By:
Pageof 23
American Journal of Medical Genetics|June 27, 2000
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndromeA L Tellier, J Amiel, A L Delezoide, et al.
American Journal of Medical Genetics|March 10, 2001
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndromeJ Amiel, T Attieé-Bitach, R Marianowski, et al.
Journal of Medical Genetics|March 4, 2005
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung diseaseA Pelet, L de Pontual, M Clément-Ziza, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1991
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel dataD De Craemer, M J Zweens, S Lyonnet, et al.
Journal of Medical Genetics|March 11, 2000
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)M Bahuau, I Laurendeau, A Pelet, et al.
American Journal of Medical Genetics|November 7, 1998
Ebstein anomaly associated with rearrangements of chromosomal region 11qP de Lonlay-Debeney, M C de Blois, D Bonnet, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC Bidaud, R Salomon, G Van Camp, et al.
American Journal of Human Genetics|December 1, 1996
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 geneJ A Terrett, R Newbury-Ecob, N M Smith, et al.
Neuropediatrics|March 17, 2006
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic studyS Romano, N Boddaert, I Desguerre, et al.
Pageof 23