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M le Merrer

Showing results (101-110 of 188) with videos related to

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Journal of Medical Genetics|September 1, 1996
Clinical and genetic heterogeneity of hypochondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
La Revue De Medecine Interne|August 7, 2002
[Hereditary multiple exostoses after 40 years of development: a case report]J Rambeloarisoa, M el Guedj, L Legeai-Mallet, et al.
Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
Clinical Genetics|August 31, 1999
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasiaA Mégarbané, F A Haddad, S Haddad-Zebouni, et al.
Journal of Medical Genetics|June 14, 2001
SHOX point mutations in dyschondrosteosisC Huber, V Cusin, M Le Merrer, et al.
Journal of Medical Genetics|May 1, 1993
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locusD Bonneau, J M Rozet, C Bulteau, et al.
Mechanisms of Development|October 24, 1998
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossificationA L Delezoide, C Benoist-Lasselin, L Legeai-Mallet, et al.
Human Molecular Genetics|April 1, 1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)F Rousseau, V el Ghouzzi, A L Delezoide, et al.
Journal of Medical Genetics|May 19, 2001
Sulphate transporter gene mutations in apparently isolated club footC Huber, S Odent, S Rumeur, et al.
Clinical Dysmorphology|July 12, 2001
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathiaL Faivre, V Cormier-Daire, D Geneviève, et al.
Pageof 19

Showing results (101-110 of 188) with videos related to

Sort By:
Pageof 19
Journal of Medical Genetics|September 1, 1996
Clinical and genetic heterogeneity of hypochondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
La Revue De Medecine Interne|August 7, 2002
[Hereditary multiple exostoses after 40 years of development: a case report]J Rambeloarisoa, M el Guedj, L Legeai-Mallet, et al.
Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
Clinical Genetics|August 31, 1999
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasiaA Mégarbané, F A Haddad, S Haddad-Zebouni, et al.
Journal of Medical Genetics|June 14, 2001
SHOX point mutations in dyschondrosteosisC Huber, V Cusin, M Le Merrer, et al.
Journal of Medical Genetics|May 1, 1993
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locusD Bonneau, J M Rozet, C Bulteau, et al.
Mechanisms of Development|October 24, 1998
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossificationA L Delezoide, C Benoist-Lasselin, L Legeai-Mallet, et al.
Human Molecular Genetics|April 1, 1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)F Rousseau, V el Ghouzzi, A L Delezoide, et al.
Journal of Medical Genetics|May 19, 2001
Sulphate transporter gene mutations in apparently isolated club footC Huber, S Odent, S Rumeur, et al.
Clinical Dysmorphology|July 12, 2001
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathiaL Faivre, V Cormier-Daire, D Geneviève, et al.
Pageof 19