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Nursel H Elcioglu

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Molecular Syndromology|June 6, 2024
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish SeriesBilge Noyan, Nursel H Elcioglu, Abdellah Tebani, et al.
American Journal of Medical Genetics. Part A|September 4, 2010
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutationAyse Tulin Mansur, Nursel H Elcioglu, Silke Redler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 29, 2023
Management of acute metabolic crisis in TANGO2 deficiency: a case reportEmel Yılmaz-Gümüş, Nursel H Elcioglu, Emine Genç, et al.
Human Genome Variation|October 7, 2017
Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> mutations in the Marshall-Stickler syndrome spectrumLong Guo, Nursel H Elcioglu, Zheng Wang, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 regionNursel H Elcioglu, Burcu Akin, Ebru Toker, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Journal of Human Genetics|March 24, 2018
Dysosteosclerosis is also caused by TNFRSF11A mutationLong Guo, Nursel H Elcioglu, Ozge K Karalar, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2019
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic SpectrumJing-Yi Xue, Zheng Wang, Satoshi Shinagawa, et al.
Journal of Clinical Immunology|May 18, 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsElisa A Colombo, Nursel H Elcioglu, Claudio Graziano, et al.
Journal of Human Genetics|March 24, 2017
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasiaLong Guo, Nursel H Elcioglu, Shuji Mizumoto, et al.
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Showing results (1-10 of 34) with videos related to

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Molecular Syndromology|June 6, 2024
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish SeriesBilge Noyan, Nursel H Elcioglu, Abdellah Tebani, et al.
American Journal of Medical Genetics. Part A|September 4, 2010
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutationAyse Tulin Mansur, Nursel H Elcioglu, Silke Redler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 29, 2023
Management of acute metabolic crisis in TANGO2 deficiency: a case reportEmel Yılmaz-Gümüş, Nursel H Elcioglu, Emine Genç, et al.
Human Genome Variation|October 7, 2017
Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> mutations in the Marshall-Stickler syndrome spectrumLong Guo, Nursel H Elcioglu, Zheng Wang, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 regionNursel H Elcioglu, Burcu Akin, Ebru Toker, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Journal of Human Genetics|March 24, 2018
Dysosteosclerosis is also caused by TNFRSF11A mutationLong Guo, Nursel H Elcioglu, Ozge K Karalar, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2019
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic SpectrumJing-Yi Xue, Zheng Wang, Satoshi Shinagawa, et al.
Journal of Clinical Immunology|May 18, 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsElisa A Colombo, Nursel H Elcioglu, Claudio Graziano, et al.
Journal of Human Genetics|March 24, 2017
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasiaLong Guo, Nursel H Elcioglu, Shuji Mizumoto, et al.
Pageof 4