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N Philip

Showing results (171-180 of 212) with videos related to

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European Journal of Human Genetics : EJHG|April 26, 2000
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1AR Bernard, V Labelle, P Negre, et al.
Human Molecular Genetics|August 1, 1994
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosaE Souied, S Gerber, J M Rozet, et al.
American Journal of Human Genetics|February 1, 1995
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndromeB Gilbert-Dussardier, D Bonneau, N Gigarel, et al.
Human Genetics|July 1, 1995
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literatureS Demczuk, A Lévy, M Aubry, et al.
European Journal of Pediatrics|June 1, 1994
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patientsC Schrander-Stumpel, P Meinecke, G Wilson, et al.
European Radiology|April 16, 2003
Value of fetal skeletal radiographs in the diagnosis of fetal deathB Bourlière-Najean, A S Russel, M Panuel, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Wolf-Hirschhorn (4P-) syndrome in adultsC Marcelis, C Schrander-Stumpel, J Engelen, et al.
Cancer Genetics and Cytogenetics|November 11, 1998
Constitutional balanced pericentric inversions of chromosomes X, 2, and 5 in myeloid malignanciesM J Mozziconacci, H Sobol, N Philip, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Pageof 22

Showing results (171-180 of 212) with videos related to

Sort By:
Pageof 22
European Journal of Human Genetics : EJHG|April 26, 2000
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1AR Bernard, V Labelle, P Negre, et al.
Human Molecular Genetics|August 1, 1994
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosaE Souied, S Gerber, J M Rozet, et al.
American Journal of Human Genetics|February 1, 1995
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndromeB Gilbert-Dussardier, D Bonneau, N Gigarel, et al.
Human Genetics|July 1, 1995
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literatureS Demczuk, A Lévy, M Aubry, et al.
European Journal of Pediatrics|June 1, 1994
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patientsC Schrander-Stumpel, P Meinecke, G Wilson, et al.
European Radiology|April 16, 2003
Value of fetal skeletal radiographs in the diagnosis of fetal deathB Bourlière-Najean, A S Russel, M Panuel, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Wolf-Hirschhorn (4P-) syndrome in adultsC Marcelis, C Schrander-Stumpel, J Engelen, et al.
Cancer Genetics and Cytogenetics|November 11, 1998
Constitutional balanced pericentric inversions of chromosomes X, 2, and 5 in myeloid malignanciesM J Mozziconacci, H Sobol, N Philip, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Pageof 22