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S Lyonnet

Showing results (71-80 of 223) with videos related to

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Developmental Medicine and Child Neurology|June 28, 2003
Early prognostic factors for intellectual outcome in CHARGE syndromeF Raqbi, C Le Bihan, M P Morisseau-Durand, et al.
Journal of Medical Genetics|May 29, 2009
Long-range regulation at the SOX9 locus in development and diseaseC T Gordon, T Y Tan, S Benko, et al.
Journal De Genetique Humaine|December 1, 1989
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]J M Saudubray, S Lyonnet, A Lombes, et al.
Journal of Medical Genetics|July 7, 2000
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardationV Cormier-Daire, M L Chauvet, S Lyonnet, et al.
Human Molecular Genetics|January 1, 1993
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuriaV Abadie, J Jaruzelska, S Lyonnet, et al.
American Journal of Human Genetics|June 1, 1991
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuriaP Labrune, D Melle, F Rey, et al.
Neuropediatrics|December 19, 2003
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)L Sztriha, Y Espinosa-Parrilla, A Gururaj, et al.
American Journal of Medical Genetics|March 1, 1994
Three new cases of the Schinzel-Giedion syndrome and review of the literatureP Labrune, S Lyonnet, V Zupan, et al.
The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's diseaseP Caron, T Attié, D David, et al.
Journal of Medical Genetics|March 1, 1993
Genetic background of clinical homogeneity of phenylketonuria in PolandJ Jaruzelska, R Matuszak, S Lyonnet, et al.
Pageof 23

Showing results (71-80 of 223) with videos related to

Sort By:
Pageof 23
Developmental Medicine and Child Neurology|June 28, 2003
Early prognostic factors for intellectual outcome in CHARGE syndromeF Raqbi, C Le Bihan, M P Morisseau-Durand, et al.
Journal of Medical Genetics|May 29, 2009
Long-range regulation at the SOX9 locus in development and diseaseC T Gordon, T Y Tan, S Benko, et al.
Journal De Genetique Humaine|December 1, 1989
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]J M Saudubray, S Lyonnet, A Lombes, et al.
Journal of Medical Genetics|July 7, 2000
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardationV Cormier-Daire, M L Chauvet, S Lyonnet, et al.
Human Molecular Genetics|January 1, 1993
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuriaV Abadie, J Jaruzelska, S Lyonnet, et al.
American Journal of Human Genetics|June 1, 1991
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuriaP Labrune, D Melle, F Rey, et al.
Neuropediatrics|December 19, 2003
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)L Sztriha, Y Espinosa-Parrilla, A Gururaj, et al.
American Journal of Medical Genetics|March 1, 1994
Three new cases of the Schinzel-Giedion syndrome and review of the literatureP Labrune, S Lyonnet, V Zupan, et al.
The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's diseaseP Caron, T Attié, D David, et al.
Journal of Medical Genetics|March 1, 1993
Genetic background of clinical homogeneity of phenylketonuria in PolandJ Jaruzelska, R Matuszak, S Lyonnet, et al.
Pageof 23