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P C Patsalis

Showing results (11-20 of 29) with videos related to

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Hormone Research|January 11, 2001
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changesN Skordis, P C Patsalis, J A Hettinger, et al.
American Journal of Medical Genetics|May 20, 1999
Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal populationP C Patsalis, C Sismani, S Stylianou, et al.
Human Molecular Genetics|May 23, 1998
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney diseaseK Christodoulou, M Tsingis, C Stavrou, et al.
Gene|August 27, 2013
A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetusC Sismani, J Donoghue, A Alexandrou, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiologyP C Patsalis, C Sismani, M I Hadjimarcou, et al.
American Journal of Medical Genetics|May 20, 1999
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stabilityP C Patsalis, C Sismani, J A Hettinger, et al.
Cytogenetics and Cell Genetics|January 1, 1996
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing geneC Constantinou Deltas, E Bashiardes, P C Patsalis, et al.
Clinical Genetics|March 1, 1997
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosomeP C Patsalis, M I Hadjimarcou, V Velissariou, et al.
Clinical Genetics|February 29, 2012
7q11.23 Microduplication: a recognizable phenotypeA Dixit, S McKee, S Mansour, et al.
Clinical Genetics|February 9, 2000
Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapyA Tsezou, C Hadjiathanasiou, D Gourgiotis, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Hormone Research|January 11, 2001
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changesN Skordis, P C Patsalis, J A Hettinger, et al.
American Journal of Medical Genetics|May 20, 1999
Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal populationP C Patsalis, C Sismani, S Stylianou, et al.
Human Molecular Genetics|May 23, 1998
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney diseaseK Christodoulou, M Tsingis, C Stavrou, et al.
Gene|August 27, 2013
A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetusC Sismani, J Donoghue, A Alexandrou, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiologyP C Patsalis, C Sismani, M I Hadjimarcou, et al.
American Journal of Medical Genetics|May 20, 1999
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stabilityP C Patsalis, C Sismani, J A Hettinger, et al.
Cytogenetics and Cell Genetics|January 1, 1996
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing geneC Constantinou Deltas, E Bashiardes, P C Patsalis, et al.
Clinical Genetics|March 1, 1997
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosomeP C Patsalis, M I Hadjimarcou, V Velissariou, et al.
Clinical Genetics|February 29, 2012
7q11.23 Microduplication: a recognizable phenotypeA Dixit, S McKee, S Mansour, et al.
Clinical Genetics|February 9, 2000
Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapyA Tsezou, C Hadjiathanasiou, D Gourgiotis, et al.
Pageof 3