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Ercan Mihci

Showing results (31-40 of 44) with videos related to

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Fetal and Pediatric Pathology|September 17, 2015
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary CenterHavva Serap Toru, Banu Guzel Nur, Cem Yasar Sanhal, et al.
Endocrine Research|September 6, 2018
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalitiesBasak Ozgen Saydam, Melda Sonmez, Ilgin Yildirim Simsir, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 31, 2003
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisAnnalisa Frattini, Alessandra Pangrazio, Lucia Susani, et al.
Bone|January 11, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismNadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Fetal and Pediatric Pathology|September 17, 2015
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary CenterHavva Serap Toru, Banu Guzel Nur, Cem Yasar Sanhal, et al.
Endocrine Research|September 6, 2018
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalitiesBasak Ozgen Saydam, Melda Sonmez, Ilgin Yildirim Simsir, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 31, 2003
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisAnnalisa Frattini, Alessandra Pangrazio, Lucia Susani, et al.
Bone|January 11, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismNadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Pageof 5