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P Miny

Showing results (71-80 of 83) with videos related to

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Human Genetics|January 1, 1990
Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencingC Aulehla-Scholz, S Basaran, L Agaoglu, et al.
American Journal of Obstetrics and Gynecology|May 1, 1992
Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal bloodD Gänshirt-Ahlert, M Burschyk, H S Garritsen, et al.
Journal of Medical Genetics|August 3, 2004
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndromeM Plasilova, C Chattopadhyay, P Pal, et al.
American Journal of Medical Genetics|May 22, 1995
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatallyP Miny, B Koppers, B Dworniczak, et al.
Clinical Genetics|November 25, 2010
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autismI Filges, B Röthlisberger, A Blattner, et al.
Molecular Human Reproduction|February 3, 2000
Characterization of an immortalized human granulosa cell line (COV434)H Zhang, M Vollmer, M De Geyter, et al.
American Journal of Reproductive Immunology (New York, N.Y. : 1989)|September 1, 1993
Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sortingD Gänshirt-Ahlert, R Börjesson-Stoll, M Burschyk, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Forensic Science International|April 10, 2017
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A geneT Jenewein, B M Beckmann, S Rose, et al.
Clinical Genetics|October 17, 2013
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotypeI Filges, E Nosova, E Bruder, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Human Genetics|January 1, 1990
Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencingC Aulehla-Scholz, S Basaran, L Agaoglu, et al.
American Journal of Obstetrics and Gynecology|May 1, 1992
Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal bloodD Gänshirt-Ahlert, M Burschyk, H S Garritsen, et al.
Journal of Medical Genetics|August 3, 2004
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndromeM Plasilova, C Chattopadhyay, P Pal, et al.
American Journal of Medical Genetics|May 22, 1995
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatallyP Miny, B Koppers, B Dworniczak, et al.
Clinical Genetics|November 25, 2010
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autismI Filges, B Röthlisberger, A Blattner, et al.
Molecular Human Reproduction|February 3, 2000
Characterization of an immortalized human granulosa cell line (COV434)H Zhang, M Vollmer, M De Geyter, et al.
American Journal of Reproductive Immunology (New York, N.Y. : 1989)|September 1, 1993
Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sortingD Gänshirt-Ahlert, R Börjesson-Stoll, M Burschyk, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Forensic Science International|April 10, 2017
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A geneT Jenewein, B M Beckmann, S Rose, et al.
Clinical Genetics|October 17, 2013
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotypeI Filges, E Nosova, E Bruder, et al.
Pageof 9