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M Le Merrer

Showing results (171-180 of 188) with videos related to

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Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Journal of Medical Genetics|May 4, 2004
Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson, J Augé, S Audollent, et al.
European Journal of Endocrinology|February 19, 2014
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patientsI Flechtner, K Lambot-Juhan, R Teissier, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.
European Journal of Endocrinology|March 26, 2014
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short statureR Teissier, I Flechtner, A Colmenares, et al.
Pageof 19

Showing results (171-180 of 188) with videos related to

Sort By:
Pageof 19
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Journal of Medical Genetics|May 4, 2004
Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson, J Augé, S Audollent, et al.
European Journal of Endocrinology|February 19, 2014
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patientsI Flechtner, K Lambot-Juhan, R Teissier, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.
European Journal of Endocrinology|March 26, 2014
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short statureR Teissier, I Flechtner, A Colmenares, et al.
Pageof 19