P M Kroisel - JoVE Visualize

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Clinical Dysmorphology|January 29, 2000

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISHE Petek, G Köstl, I Mutz, et al.

American Journal of Medical Genetics|November 15, 2000

Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosisJ Löffler, A Trojovsky, B Casati, et al.

American Journal of Medical Genetics|December 26, 2001

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndromeW Emberger, E Petek, P M Kroisel, et al.

Human Molecular Genetics|December 1, 1992

Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNAD H Johnson, P M Kroisel, H J Klapper, et al.

Clinical Genetics|March 18, 2008

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)T Kroepfl, E Petek, T Schwarzbraun, et al.

Genetic Counseling (Geneva, Switzerland)|November 6, 2002

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13)M Tschernigg, E Petek, A Leonhardtsberger, et al.

American Journal of Medical Genetics|May 20, 1999

Mosaicism in a fragile X male including a de novo deletion in the FMR1 geneE Petek, P M Kroisel, M Schuster, et al.

Genetic Counseling (Geneva, Switzerland)|May 23, 2007

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotypeM Mach, C Windpassinger, K Wagner, et al.

Prenatal Diagnosis|March 31, 2000

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformationE Petek, K Wagner, H Steiner, et al.

Cancer|November 15, 1991

Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patientsI Slavc, C Urban, O A Haas, et al.

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Showing results (11-20 of 37) with videos related to

Sort By:

Pageof 4

Clinical Dysmorphology|January 29, 2000

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISHE Petek, G Köstl, I Mutz, et al.

American Journal of Medical Genetics|November 15, 2000

Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosisJ Löffler, A Trojovsky, B Casati, et al.

American Journal of Medical Genetics|December 26, 2001

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndromeW Emberger, E Petek, P M Kroisel, et al.

Human Molecular Genetics|December 1, 1992

Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNAD H Johnson, P M Kroisel, H J Klapper, et al.

Clinical Genetics|March 18, 2008

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)T Kroepfl, E Petek, T Schwarzbraun, et al.

Genetic Counseling (Geneva, Switzerland)|November 6, 2002

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13)M Tschernigg, E Petek, A Leonhardtsberger, et al.

American Journal of Medical Genetics|May 20, 1999

Mosaicism in a fragile X male including a de novo deletion in the FMR1 geneE Petek, P M Kroisel, M Schuster, et al.

Genetic Counseling (Geneva, Switzerland)|May 23, 2007

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotypeM Mach, C Windpassinger, K Wagner, et al.

Prenatal Diagnosis|March 31, 2000

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformationE Petek, K Wagner, H Steiner, et al.

Cancer|November 15, 1991

Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patientsI Slavc, C Urban, O A Haas, et al.

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