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Peter Meinecke

Showing results (21-30 of 40) with videos related to

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American Journal of Medical Genetics. Part A|June 26, 2010
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndromeMiles D Thompson, Marjan M Nezarati, Gabriele Gillessen-Kaesbach, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMay-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
American Journal of Human Genetics|November 7, 2020
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal AbnormalitiesPauline E Schneeberger, Leonie von Elsner, Emma L Barker, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
Science (New York, N.Y.)|March 23, 2013
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entryLucas T Jae, Matthijs Raaben, Moniek Riemersma, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
European Journal of Medical Genetics|December 28, 2005
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classificationChristiane Tasse, Stefan Böhringer, Sven Fischer, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypesSeval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|June 26, 2010
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndromeMiles D Thompson, Marjan M Nezarati, Gabriele Gillessen-Kaesbach, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMay-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
American Journal of Human Genetics|November 7, 2020
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal AbnormalitiesPauline E Schneeberger, Leonie von Elsner, Emma L Barker, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
Science (New York, N.Y.)|March 23, 2013
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entryLucas T Jae, Matthijs Raaben, Moniek Riemersma, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
European Journal of Medical Genetics|December 28, 2005
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classificationChristiane Tasse, Stefan Böhringer, Sven Fischer, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypesSeval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, et al.
Pageof 4