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A Baumer

Showing results (31-40 of 63) with videos related to

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European Journal of Pediatrics|February 24, 2001
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2S Fokstuen, K Vrticka, M Riegel, et al.
Journal of Medical Genetics|January 16, 1998
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformationA Schinzel, L Brecevic, F Dutly, et al.
European Journal of Medical Genetics|August 2, 2005
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21M Riegel, P Hargreaves, A Baumer, et al.
Genetic Counseling (Geneva, Switzerland)|October 28, 2011
Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosisS Yakut, M Simsek, H E Pestereli, et al.
Human Genetics|November 10, 2001
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromesM Riegel, A Baumer, M Jamar, et al.
American Journal of Medical Genetics|October 26, 2002
Meiotic origin of two ring chromosomes 18 in a girl with developmental delayA Baumer, M L Giovannucci Uzielli, S Guarducci, et al.
Cytogenetic and Genome Research|September 29, 2007
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy maleA Baumer, S Basaran, M Taralczak, et al.
American Journal of Medical Genetics|October 21, 1998
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11F Dutly, A Baumer, H Kayserili, et al.
Biochemistry International|December 1, 1990
Mitochondrial gene mutation: the ageing process and degenerative diseasesA W Linnane, A Baumer, R J Maxwell, et al.
Genetic Counseling (Geneva, Switzerland)|August 6, 2005
A case with de novo interstitial deletion of chromosome 7q21.1-q22E Manguoğlu, S Berker-Karaüzüm, A Baumer, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
European Journal of Pediatrics|February 24, 2001
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2S Fokstuen, K Vrticka, M Riegel, et al.
Journal of Medical Genetics|January 16, 1998
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformationA Schinzel, L Brecevic, F Dutly, et al.
European Journal of Medical Genetics|August 2, 2005
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21M Riegel, P Hargreaves, A Baumer, et al.
Genetic Counseling (Geneva, Switzerland)|October 28, 2011
Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosisS Yakut, M Simsek, H E Pestereli, et al.
Human Genetics|November 10, 2001
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromesM Riegel, A Baumer, M Jamar, et al.
American Journal of Medical Genetics|October 26, 2002
Meiotic origin of two ring chromosomes 18 in a girl with developmental delayA Baumer, M L Giovannucci Uzielli, S Guarducci, et al.
Cytogenetic and Genome Research|September 29, 2007
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy maleA Baumer, S Basaran, M Taralczak, et al.
American Journal of Medical Genetics|October 21, 1998
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11F Dutly, A Baumer, H Kayserili, et al.
Biochemistry International|December 1, 1990
Mitochondrial gene mutation: the ageing process and degenerative diseasesA W Linnane, A Baumer, R J Maxwell, et al.
Genetic Counseling (Geneva, Switzerland)|August 6, 2005
A case with de novo interstitial deletion of chromosome 7q21.1-q22E Manguoğlu, S Berker-Karaüzüm, A Baumer, et al.
Pageof 7