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Nursel H Elcioglu

Showing results (11-20 of 34) with videos related to

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Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.
American Journal of Medical Genetics. Part A|June 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, et al.
Clinical Genetics|February 26, 2022
Phenotypic spectrum of BLM- and RMI1-related Bloom syndromeIpek Ilgin Gönenc, Nursel H Elcioglu, Carolina Martinez Grijalva, et al.
International Journal of Molecular Sciences|April 13, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer OutcomeElisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, et al.
European Journal of Pediatrics|June 26, 2012
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literatureJan-Ulrich Schlump, Anja Stein, Ute Hehr, et al.
European Journal of Pediatrics|December 6, 2024
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from TurkeyAkçahan Akalın, Şervan Özalkak, Ruken Yıldırım, et al.
Pigment Cell & Melanoma Research|June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPSVincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
American Journal of Human Genetics|June 12, 2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral AnomaliesSilvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.
American Journal of Medical Genetics. Part A|June 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, et al.
Clinical Genetics|February 26, 2022
Phenotypic spectrum of BLM- and RMI1-related Bloom syndromeIpek Ilgin Gönenc, Nursel H Elcioglu, Carolina Martinez Grijalva, et al.
International Journal of Molecular Sciences|April 13, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer OutcomeElisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, et al.
European Journal of Pediatrics|June 26, 2012
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literatureJan-Ulrich Schlump, Anja Stein, Ute Hehr, et al.
European Journal of Pediatrics|December 6, 2024
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from TurkeyAkçahan Akalın, Şervan Özalkak, Ruken Yıldırım, et al.
Pigment Cell & Melanoma Research|June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPSVincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
American Journal of Human Genetics|June 12, 2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral AnomaliesSilvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
Pageof 4