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Peter Meinecke

Showing results (11-20 of 40) with videos related to

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Clinical Dysmorphology|March 23, 2010
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literatureIrina Stefanova, Jutta Jenderny, Elke Kaminsky, et al.
European Journal of Human Genetics : EJHG|February 12, 2004
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts, Gerard Waeber, Peter Meinecke, et al.
Genomics|April 15, 2004
Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndromeMarkéta Sutajová, Ursula Neukirchen, Peter Meinecke, et al.
Clinical Dysmorphology|July 31, 2010
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardationLoukas Argyriou, Olaf Hiort, Peter Meinecke, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 9, 2023
TMCO3, a Putative K<sup>+</sup> :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and HumansTess Holling, Laura Brylka, Tasja Scholz, et al.
American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.
Cell Calcium|February 26, 2020
Single-channel properties of skeletal muscle ryanodine receptor pore Δ<sup>4923</sup>FF<sup>4924</sup> in two brothers with a lethal form of fetal akinesiaLe Xu, Frederike L Harms, Venkat R Chirasani, et al.
American Journal of Human Genetics|March 31, 2009
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2Katarina Dathe, Klaus W Kjaer, Anja Brehm, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante, Hans G Kehl, Frank Majewski, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Clinical Dysmorphology|March 23, 2010
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literatureIrina Stefanova, Jutta Jenderny, Elke Kaminsky, et al.
European Journal of Human Genetics : EJHG|February 12, 2004
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts, Gerard Waeber, Peter Meinecke, et al.
Genomics|April 15, 2004
Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndromeMarkéta Sutajová, Ursula Neukirchen, Peter Meinecke, et al.
Clinical Dysmorphology|July 31, 2010
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardationLoukas Argyriou, Olaf Hiort, Peter Meinecke, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 9, 2023
TMCO3, a Putative K<sup>+</sup> :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and HumansTess Holling, Laura Brylka, Tasja Scholz, et al.
American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.
Cell Calcium|February 26, 2020
Single-channel properties of skeletal muscle ryanodine receptor pore Δ<sup>4923</sup>FF<sup>4924</sup> in two brothers with a lethal form of fetal akinesiaLe Xu, Frederike L Harms, Venkat R Chirasani, et al.
American Journal of Human Genetics|March 31, 2009
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2Katarina Dathe, Klaus W Kjaer, Anja Brehm, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante, Hans G Kehl, Frank Majewski, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
Pageof 4