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M le Merrer

Showing results (141-150 of 188) with videos related to

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American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.
Fetal Diagnosis and Therapy|March 27, 2002
Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?D Mahieu-Caputo, L J Salomon, M Dommergues, et al.
Nature Genetics|March 1, 1994
A gene for achondroplasia-hypochondroplasia maps to chromosome 4pM Le Merrer, F Rousseau, L Legeai-Mallet, et al.
Human Molecular Genetics|May 1, 1994
A gene for hereditary multiple exostoses maps to chromosome 19pM Le Merrer, L Legeai-Mallet, P M Jeannin, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Journal of Neurosurgery|March 6, 1999
Clinical variability in patients with Apert's syndromeE Lajeunie, R Cameron, V El Ghouzzi, et al.
Genomics|October 1, 1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92S Heuertz, M Nelen, A O Wilkie, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Pageof 19

Showing results (141-150 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.
Fetal Diagnosis and Therapy|March 27, 2002
Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?D Mahieu-Caputo, L J Salomon, M Dommergues, et al.
Nature Genetics|March 1, 1994
A gene for achondroplasia-hypochondroplasia maps to chromosome 4pM Le Merrer, F Rousseau, L Legeai-Mallet, et al.
Human Molecular Genetics|May 1, 1994
A gene for hereditary multiple exostoses maps to chromosome 19pM Le Merrer, L Legeai-Mallet, P M Jeannin, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Journal of Neurosurgery|March 6, 1999
Clinical variability in patients with Apert's syndromeE Lajeunie, R Cameron, V El Ghouzzi, et al.
Genomics|October 1, 1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92S Heuertz, M Nelen, A O Wilkie, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Pageof 19